Full data view for gene BTK

BTKbase is part of the IDbases
Information The variants shown are described using the NM_000061.2 transcript reference sequence.

1796 entries on 18 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

ClassClinical     

Protein     

VariO/DNA     

VariO/RNA     

VariO/Protein     

P-domain     

Protein level     

mRNA level     

Enzyme activity     

CpG     

Codon change     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-4963G>A r.(?) likely benign p.(=) - - - - - - - - - Unknown g.100645982C>T - RPL36A(NM_001199972.1):c.59C>T (p.(Pro20Leu)) - RPL36A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 1 c.-230A>C r.(=) - p.(=) DNA substitution (VariO:0136);transversion (VariO:0316) - - Upstream much reduced - - - - Maternal (inferred) g.100641249T>G g.101386261T>G -67a->c(promoter) - BTK_000309 mother is carrier PubMed: Futatani, T 2001, IDbase_AccNr: A0758 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 B-01-1 PubMed: Futatani, T (2001) - M ? ? (unknown) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1 c.-193A>G r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PU1 site reduced - - - - Unknown g.100641212T>C g.101386224T>C - - BTK_000308 - PubMed: Holinski-Feder, E 1998, IDbase_AccNr: A0386 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 1 PubMed: Holinski-Feder, E (1998) - M ? - - - 0 - - 1 Dr. Michael Weiss
+?/-? 1 c.(?_-193)_(-31_?)del(3500) r.? likely pathogenic p.? DNA deletion (VariO:0141) - - - - - - - - Unknown g.(?_100641050)_(100641212_?)[del(3000)] - - - BTK_000776 deletion of 3.5 kb encompassing exon 1, undefined borders Hendriks, RW; pers. comm., IDbase_AccNr: A0028 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - Hendriks, RW; pers. comm. - M ? (Netherlands) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1 c.-193_-31del r.spl - p.? DNA deletion (VariO:0141) - - - - - - - - Unknown g.100641050_100641212del g.101386062_101386224del Exon 1 deletion - BTK_000845 - PubMed: Aadam 2016, IDbase_AccNr: A1572 - - Unknown - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 20 PubMed: Aadam 2016 - M ? Algeria - - 0 - - 1 Qing Wang
+?/. 1_3 c.-193_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - Unknown g.100629524_100641212del g.101374536_101386224del - - BTK_000777 Deletion of exon 1 to exon 3 PubMed: Singh 2016, IDbase_AccNr: A1609 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 6 PubMed: Singh 2016 - M ? (India) - - 0 - - 1 Qing Wang
+?/. _1_19_ c.(?_-193)_(*438_?)del r.spl - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0005 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Vetrie (1993) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. _1_19_ c.(?_-193)_(*438_?)del r.spl - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0006 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Vetrie (1993) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. _1_19_ c.(?_-193)_(*438_?)del r.spl - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0007 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Vetrie (1993) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. _1_19_ c.(?_-193)_(*438_?)del r.spl - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown g.(?_100641212)_(100604435_?)del - - - BTK_000891 Large undefined deletion PubMed: Vetrie 1993, IDbase_AccNr: A0008 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Vetrie (1993) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1 c.-58A>G r.(=) - p.(=) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - Unknown g.100641077T>C g.101386089T>C 5'UTR-58A>G - BTK_000307 mother is not carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1428 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 P54 PubMed: Lee, P. P (2010) - M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - PH - - - - - Maternal (inferred) g.100641049C>T g.101386061C>T IVS1+1G>A - BTK_000305 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1360 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P42 PubMed: Lee, P. P (2010) - M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Unknown g.100641049C>T g.101386061C>T - - BTK_000305 - PubMed: Singh 2016, IDbase_AccNr: A1614 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 19 PubMed: Singh 2016 - M ? (India) - - 0 - - 1 Qing Wang
+?/. 1i c.-31+1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Unknown g.100641049C>T g.101386061C>T IVS1+1G>A - BTK_000305 - PubMed: Chen XF, 2016, IDbase_AccNr: A1682 - - Unknown - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 1 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+?/. 1i c.-31+1G>C r.spl - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - Unknown g.100641049C>G g.101386061C>G - - BTK_000306 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1078 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 0016 227 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+1G>C r.spl - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - Unknown g.100641049C>G g.101386061C>G - - BTK_000306 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1079 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 0017 291 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+1G>C r.spl - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - Maternal (confirmed) g.100641049C>G g.101386061C>G g.IVS1+1G>C - BTK_000306 mother is carrier PubMed: Garcia Rodriguez, M. C 2001, IDbase_AccNr: A0728 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 1 PubMed: Garcia Rodriguez, M. C (2001) - M - Spain - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+5G>A r.(spl?) - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Unknown g.100641045C>T g.101386057C>T - - BTK_000302 - PubMed: Chun, J. K 2008, IDbase_AccNr: A1251 - - Germline - - - 0 - DNA PCR, SEQ-NG, SSCA - - XLA;AGMX-1 14 PubMed: Chun, J. K (2008) - M - Korea, South (Republic) Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/+? 1i c.-31+5G>A r.(spl?) likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Maternal (confirmed) g.100641045C>T g.101386057C>T - - BTK_000302 mother is carrier PubMed: Jo, E. K 2001, IDbase_AccNr: A0783 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-2 PubMed: Jo, E. K (2001) Relative in BTKbase: A0782; brother M - Korea - - 0 - - 1 Gerard C.P. Schaafsma
+?/+? 1i c.-31+5G>A r.(spl?) likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Maternal (confirmed) g.100641045C>T g.101386057C>T - - BTK_000302 mother is carrier PubMed: Jo, E. K 2001, IDbase_AccNr: A0782 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-1 PubMed: Jo, E. K (2001) Relative in BTKbase: A0783; brother M - Korea - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+5G>C r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) g.100641045C>G g.101386057C>G IVS1+5G>C - BTK_000304 splice donor defect PubMed: Aghamohammadi, A 2006, IDbase_AccNr: A1203 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P2-I PubMed: Aghamohammadi, A (2006) Relative in BTKbase: A1204;nephew M - Iran Caucasoid - 0 - - 1 Asghar Aghamohammadi
+?/. 1i c.-31+5G>C r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) g.100641045C>G g.101386057C>G IVS1+5G>C - BTK_000304 Splice donor defect PubMed: Aghamohammadi, A 2006, IDbase_AccNr: A1204 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P2-II PubMed: Aghamohammadi, A (2006) Relative in BTKbase: A1203;maternal uncle M - Iran Caucasoid - 0 - - 1 Asghar Aghamohammadi
+?/. 1i c.-31+5G>C r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) g.100641045C>G g.101386057C>G ivs1+5G>C - BTK_000304 - PubMed: Abolhassani 2016, IDbase_AccNr: A1618 - - Unknown - - - 0 - DNA DHPLC, SEQ-NG, PCR - - XLA;AGMX-1 F3-1 PubMed: Abolhassani 2016 Relative in BTKbase: A1619 and A1620 M ? Iran - - 0 - - 1 Qing Wang
+?/. 1i c.-31+5G>C r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) g.100641045C>G g.101386057C>G ivs1+5G>C - BTK_000304 - PubMed: Abolhassani 2016, IDbase_AccNr: A1619 - - Unknown - - - 0 - DNA DHPLC, SEQ-NG, PCR - - XLA;AGMX-1 F3-2 PubMed: Abolhassani 2016 Relative in BTKbase: A1618 and A1620 M ? Iran - - 0 - - 1 Qing Wang
+?/. 1i c.-31+5G>C r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - absent - - - - Paternal (inferred) g.100641045C>G g.101386057C>G ivs1+5G>C - BTK_000304 - PubMed: Abolhassani 2016, IDbase_AccNr: A1620 - - Unknown - - - 0 - DNA DHPLC, SEQ-NG, PCR - - XLA;AGMX-1 F3-3 PubMed: Abolhassani 2016 Relative in BTKbase: A1618 and A1619 M ? Iran - - 0 - - 1 Qing Wang
+?/. 1i c.-31+5G>T r.(spl?) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - Unknown g.100641045C>A g.101386057C>A - - BTK_000303 - PubMed: Shin, D. M 2008, IDbase_AccNr: A1476 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Shin, D. M (2008) - M - Japan - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+6T>G r.(=) - p.(=) DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - Unknown g.100641044A>C g.101386056A>C - - BTK_000301 - PubMed: Conley, M. E 1998, IDbase_AccNr: A0471 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 0030 PubMed: Conley, M. E (1998) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-31+6T>G r.(=) - p.(=) DNA substitution (VariO:0136);transversion (VariO:0316) - - - - - - - - Unknown g.100641044A>C g.101386056A>C - - BTK_000301 - PubMed: Conley, M. E 1998, IDbase_AccNr: A0470 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 0025 PubMed: Conley, M. E (1998) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+/. 1i_19_ c.-31+1781_*161625del r.0? pathogenic (recessive) p.0? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown g.100443248_100639269del - - - BTK_000931 196 kb deletion (sequences Fig.3 incorrect, top BTK, bottom DRP2, junction sequence?) PubMed: Arai 2011 - - Germline - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 21753765-Pat3 PubMed: Arai 2011 - M - Japan - - 0 - - 1 Johan den Dunnen
+?/+? 1i_5i c.-31+4069_391+2400dup r.spl likely pathogenic (recessive) p.? DNA insertion (VariO:0142) - - PH absent - - - - Maternal (confirmed) g.100622586_100636981dup g.101367598_101381993dup - - BTK_000645 mother is carrier PubMed: Kristufek, D 2007, IDbase_AccNr: A1227 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ-NG blood - XLA;AGMX-1 P7b PubMed: Kristufek, D (2007) Relative in BTKbase: A1226; brother M - Central Europe - - 0 - - 1 Gerard C.P. Schaafsma
+?/+? 1i_5i c.-31+4069_391+2400dup r.spl likely pathogenic (recessive) p.? DNA insertion (VariO:0142) - - PH absent - - - - Maternal (confirmed) g.100622586_100636981dup g.101367598_101381993dup - - BTK_000645 mother is carrier PubMed: Kristufek, D 2007, IDbase_AccNr: A1226 - - Germline - - - 0 - DNA, RNA ?, RT-PCR, SEQ-NG blood - XLA;AGMX-1 P7a PubMed: Kristufek, D (2007) Relative in BTKbase: A1227; brother M - Central Europe - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 1i c.-30-1G>A r.spl - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) - - - - - - - - Unknown g.100630303C>T g.101375315C>T - - BTK_000587 - PubMed: Conley, M. E 1998, IDbase_AccNr: A0472 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 0015 PubMed: Conley, M. E (1998) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2_3 c.(?_-30-1)_(240+1_?)del(3000) r.? likely pathogenic p.? DNA deletion (VariO:0141) - - PH - - - - - Unknown g.(?_100629524)_(100630302_?)[del(3000)] - - - BTK_000822 deletion of 3 kb of exons 2 and 3 PubMed: Conley 2005, IDbase_AccNr: A1080 - - Unknown - - - 0 - DNA PCR, SSCA - - XLA;AGMX-1 0064 235 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - Unknown g.100629524_100630302del g.101374536_101375314del - - BTK_000451 - IDbase_AccNr: A0534 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - - - - - - - - 0 - - 1 Hans D. Ochs, Prof. Dr.
+?/. 2_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - Maternal (inferred) g.100629524_100630302del g.101374536_101375314del EX2-EX3del - BTK_000451 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1444 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P28 PubMed: Lee, P. P (2010) - M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2_3 c.-30_240del r.spl likely pathogenic (recessive) p.? DNA deletion (VariO:0141) - - PH - - - - - Unknown g.100629524_100630302del g.101374536_101375314del EX2_EX3del - BTK_000451 - PubMed: Yip 2000, IDbase_AccNr: A0631 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 6 PubMed: Yip, K.L (2000) - - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - Unknown g.100629524_100630302del g.101374536_101375314del - - BTK_000451 Deletion of exon 2 to exon 3 PubMed: Singh 2016, IDbase_AccNr: A1610 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 16 PubMed: Singh 2016 - M ? (India) - - 0 - - 1 Qing Wang
+?/. 2_3 c.-30_240del r.spl - p.? DNA deletion (VariO:0141) - - PH - - - - - Unknown g.100629524_100630302del g.101374536_101375314del exon 2-3 deletion - BTK_000451 - PubMed: Chen XF, 2016, IDbase_AccNr: A1778 - - Unknown - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 116 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+?/+ 2_16 c.-30_1631del r.? - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown g.100609618_100630302del g.101354630_101375314del deletion of exon 2 to 16 - BTK_000782 - PubMed: Chen XF, 2016, IDbase_AccNr: A1760 - - Unknown - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 92 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+?/. 2_19 c.-30_*438del r.? - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown g.100604435_100630302del g.101349447_101375314del Ex2-19 del - BTK_000883 Deletion of exon 2 to exon 19 PubMed: Aadam 2016, IDbase_AccNr: A1573 - - Unknown - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 21 PubMed: Aadam 2016 - M ? Algeria - - 0 - - 1 Qing Wang
+?/. 2 c.-23dup r.(=) - p.(=) DNA insertion (VariO:0142) - - - - - - - - Unknown g.100630295dup g.101375307dup - - BTK_000586 - PubMed: Okoh, M. P 2002, IDbase_AccNr: A0795 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Okoh, M. P (2002) - M - Malaysia - - 0 - - 1 Michael Okoh
+?/. 2 c.-4_-1del r.(=) - p.(=) DNA deletion (VariO:0141) - - - - - - - - Unknown g.100630272_100630276del g.101375284_101375288del 128_133delAAGCT - BTK_000830 - PubMed: Chen XF, 2016, IDbase_AccNr: A1803 - - Unknown - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 2 PubMed: Chen XF 2016 - M - China - - 0 - - 1 Qing Wang
+?/. 1i c.(-31+?_-30-?)ins(13000) r.? - p.? DNA insertion (VariO:0142) - - - - - - - - Unknown g.(100641049_100630303)[ins(13000)] - - - BTK_000768 Insertion (13 kb) within intron 1 PubMed: Conley 1998, IDbase_AccNr: A0473 - - Germline - - - 0 - DNA PCR, SSCA - - XLA;AGMX-1 0060 PubMed: Conley et al (1998) - M - (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 13_19 c.(1103-?)_(*438+?)del r.? - p.? DNA deletion (VariO:0141) - - SH2; TK - - - - - Unknown g.(?_100604435)_(100612571_?)del - - - BTK_000774 deletion of exons 13-19 IDbase_AccNr: A1606 - - Germline ? - - 0 - DNA ? - - XLA;AGMX-1 - - Mother, aunt and cousin carriers M ? (Russian Federation) - - 0 - - 1 Qing Wang
+?/. 2i c.(141+?)_(142-?)ins(72) r.? - p.? DNA insertion (VariO:0142) - - PH - - - - - Unknown g.(100629623_?)_(?_100630131)[ins72] - 72 bp insertion between exons 2 and 3, IFinsL47 + 24 - BTK_000889 predicted to create an in-frame insertion of 24 amino acids after L47 (IFiL47 + 24) in the PH domain PubMed: Garcia-Garcia 2016, IDbase_AccNr: A1855 - - Germline - - - 0 - RNA SEQ-NG, PCR - - XLA;AGMX-1 P23 PubMed: Garcia-Garcia 2016 - M ? Mexico mestizo - 0 - - 1 Qing Wang
+?/. - c.(1632-?)_(1908+?)del r.? - p.? DNA deletion (VariO:0141) - - TK - - - - - Maternal (confirmed) g.(?_100608182)_(100608976_?)del - - - BTK_000828 large undefined deletion, exon 17, 18 absent. Exons 15, 16 variably skipped; mother is carrier PubMed: Haire, R. N (1997); IDbase_AccNr: A0287 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P42 PubMed: Haire, R. N (1997) - M ? (United States) - - 0 - - 1 Dr. Gary W. Litman
+?/. 17i c.(1750+?)_(1751-?)ins(518) r.? - p.? DNA insertion (VariO:0142) - - TK - - - - - Unknown g.(?_100608339)_(100608858_?)[ins518] - 518 bp insertion between exon 17 and exon 18 - BTK_000829 Published as FSiF583X597, frameshift mutation coding a change in the aminoacid sequence and a premature stop codon PubMed: Lopez-Herrera 2008, IDbase_AccNr: A1484 - - Unknown - - - 0 - RNA PCR, SEQ - - XLA;AGMX-1 P9 PubMed: Lopez-Herrera 2008 - ? ? - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 4i c.(309+?)_(310-?)ins(>30000) r.? - p.? DNA insertion (VariO:0142) - - PH - - - - - Unknown g.(100625068_?)_(?_100626620)[ins(>30000)] - - - BTK_000900 >30 kb insertion within intron 4 PubMed: Conley 1998, IDbase_AccNr: A0479 - - De novo - - - 0 - DNA PCR, SSCA - - XLA;AGMX-1 0540 PubMed: Conley et al (1998) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 8i_9i c.(776+?)_(840-?)del r.spl - p.? DNA deletion (VariO:0141) - - SH3 - - - - - Unknown g.(?_100615556)_(100614335_?)del - Intron 8~9 deletion - BTK_000871 Deletion of intron 8 to intron 9? PubMed: Singh 2016, IDbase_AccNr: A1611 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 4 PubMed: Singh 2016 - M ? (India) - - 0 - - 1 Qing Wang
+?/. 19 c.(?_*432)_?del r.(=) - p.(=) DNA deletion (VariO:0141) - - TK - - - - - Unknown g.(?_100604441)_?del - - - BTK_000898 deletion including 3" end of BTK gene and including al least part of exon 19 IDbase_AccNr: A0611 - - Unknown - - - 0 - DNA ? - - - - - - - - - - - - - - - -
+?/. - c.(?_-57)_1696del r.? - p.? DNA deletion (VariO:0141) - - PH; TH; SH3; SH2; TK - - - - - Unknown g.(?_100641212)_100608911del - 5'UTR-C1828 - BTK_000897 The 5'-terminal half of the cDNA was not amplified, suggesting a large deletion PubMed: Hashimoto et al 1996, IDbase_AccNr: A0324 - - De novo - - - 0 - DNA RT-PCR, SEQ, SSCA, Western - - XLA;AGMX-1 P35 PubMed: Hashimoto et al (1996) - M ? Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 10_19 c.888_(*438_?)del r.? - p.? DNA deletion (VariO:0141) - - SH2; TK absent; ref [2] - - - - Unknown g.100614287_(100604435_?)del - - - BTK_000899 - PubMed: Hashimoto et al 1996, PubMed: Futatani et al 1998, IDbase_AccNr: A0323 - - De novo - - - 0 - DNA RT-PCR, SEQ, SSCA - - XLA;AGMX-1 P11 PubMed: Hashimoto et al (1996) PubMed: Futatani et al (1998) - M ? Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.1A>G r.(1a>g) - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315) - PH - - - - atg -> gtg; 1 Unknown g.100630272T>C g.101375284T>C - - BTK_000585 - PubMed: Bradley, L.A.D 1994, IDbase_AccNr: A0010 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 SB PubMed: Bradley, L.A.D (1994) 3 brothers, 2 affected M - (United Kingdom (Great Britain)) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.1A>G r.(1a>g) - p.? DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315) - PH - - - - atg -> gtg; 1 Unknown g.100630272T>C g.101375284T>C - - BTK_000585 - PubMed: Conley, M. E 1994, IDbase_AccNr: A0079 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 1 PubMed: Conley, M. E (1994) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/+? 2 c.2T>A r.(2u>a) likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> aag; 2 Maternal (confirmed) g.100630271A>T g.101375283A>T c.134T>A - BTK_000584 mother is carrier PubMed: Qin, X 2013, IDbase_AccNr: A1457 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 1 PubMed: Qin, X (2013) - M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.2T>C r.(2u>c) - p.? DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314) - PH - - - - atg -> acg; 2 Unknown g.100630271A>G g.101375283A>G - - BTK_000583 - IDbase_AccNr: A0347 - - Germline - - EagI+ 0 - DNA ? - - XLA;AGMX-1 - - 7 affected males in 3 generations M - - - - 0 - - 1 Dr. Tracy Lester
+?/. 2 c.2T>C r.(2u>c) - p.? DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314) - PH - - - - atg -> acg; 2 Unknown g.100630271A>G g.101375283A>G - - BTK_000583 - PubMed: Bradley, L.A.D 1994, IDbase_AccNr: A0009 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 BB PubMed: Bradley, L.A.D (1994) - M - (United Kingdom (Great Britain)) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.2T>C r.(2u>c) - p.? DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314) - PH - - - - atg -> acg; 2 Unknown g.100630271A>G g.101375283A>G - - BTK_000583 - PubMed: Bykowsky, M. J 1996, IDbase_AccNr: A0267 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 II1 PubMed: Bykowsky, M. J (1996) Relative in BTKbase: A0268; brother; Relative in BTKbase: A0269; uncle M - (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.2T>C r.(2u>c) - p.? DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314) - PH - - - - atg -> acg; 2 Unknown g.100630271A>G g.101375283A>G - - BTK_000583 - PubMed: Bykowsky, M. J 1996, IDbase_AccNr: A0268 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 II2 PubMed: Bykowsky, M. J (1996) Relative in BTKbase: A0267; brother; Relative in BTKbase: A0269; uncle M - (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.2T>C r.(2u>c) - p.? DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314) - PH - - - - atg -> acg; 2 Unknown g.100630271A>G g.101375283A>G - - BTK_000583 - PubMed: Bykowsky, M. J 1996, IDbase_AccNr: A0269 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 III1 PubMed: Bykowsky, M. J (1996) Relative in BTKbase: A0267; nephew; Relative in BTKbase: A0268; nephew M - (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.2T>C r.(2u>c) - p.? DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314) - PH - - - - atg -> acg; 2 Unknown g.100630271A>G g.101375283A>G - - BTK_000583 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1081 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 0105 249 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.2T>C r.(2u>c) - p.? DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);initiation codon change (VariO:0317) - PH - - - - - Maternal (confirmed) g.100630271A>G g.101375283A>G 134T>C, M1T - BTK_000583 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1804 - - Germline - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 3 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+?/. 2 c.3G>T r.(3g>u) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transversion (VariO:0316) - PH - - - - atg -> att; 3 Unknown g.100630270C>A g.101375282C>A - - BTK_000378 - PubMed: Yip, K. L 2000, IDbase_AccNr: A0625 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 1-1 PubMed: Yip, K. L (2000) Relative in BTKbase: A0800; Relative in BTKbase: A0801 - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) initiation codon change (VariO:0317);RNA substitution (VariO:0312);transversion (VariO:0316) - PH - - - - atg -> att; 3 Unknown g.100630270C>A g.101375282C>A - - BTK_000378 - PubMed: Noordzij, J. G 2002, IDbase_AccNr: A0831 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 XLA-17 PubMed: Noordzij, J. G (2002) - M - (Netherlands) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Unknown g.100630270C>A g.101375282C>A 135G>T - BTK_000378 - PubMed: Yip, K. L 2000, IDbase_AccNr: A0800 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 1-2 PubMed: Yip, K. L (2000) Relative in BTKbase: A0625; Relative in BTKbase: A0801 - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) likely pathogenic (recessive) p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Unknown g.100630270C>A g.101375282C>A 135G>T - BTK_000378 - PubMed: Yip, K. L 2000, IDbase_AccNr: A0801 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 1-3 PubMed: Yip, K. L (2000) Relative in BTKbase: A0625; Relative in BTKbase: A0800 - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Maternal (confirmed) g.100630270C>A g.101375282C>A 135G>T - BTK_000378 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1441 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-3 PubMed: Lee, P. P (2010) Relative in BTKbase: A1438, cousin; Relative in BTKbase: A1440, cousin; M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Maternal (confirmed) g.100630270C>A g.101375282C>A 135G>T - BTK_000378 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1440 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-2 PubMed: Lee, P. P (2010) Relative in BTKbase: A1438, cousin; Relative in BTKbase: A1441, cousin; M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.3G>T r.(3g>u) - p.? DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);initiation codon change (VariO:0317) - PH - - - - atg -> att; 3 Maternal (confirmed) g.100630270C>A g.101375282C>A 135G>T - BTK_000378 mother is carrier PubMed: Lee, P. P 2010, IDbase_AccNr: A1438 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P1-1 PubMed: Lee, P. P (2010) Relative in BTKbase: A1440, cousin; Relative in BTKbase: A1441, cousin M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.12dup r.(12dup) - p.(Ile5Aspfs*37) DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - Unknown g.100630261dup g.101375273dup - - BTK_000377 - PubMed: Kanegane, H 2001, IDbase_AccNr: A1051 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P71-1 PubMed: Kanegane, H (2001) Relative in BTKbase: A1052; brother M - Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.12dup r.(12dup) - p.(Ile5Aspfs*37) DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - Unknown g.100630261dup g.101375273dup - - BTK_000377 - PubMed: Kanegane, H 2001, IDbase_AccNr: A1052 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P71-2 PubMed: Kanegane, H (2001) Relative in BTKbase: A1051; brother M - Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.15_40del r.(15_40del) - p.(Leu6Profs*27) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - Unknown g.100630233_100630258del g.101375245_101375270del - - BTK_000339 - IDbase_AccNr: A0448 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - - - M - - - - 0 - - 1 Hans D. Ochs, Prof. Dr.
+?/. 2 c.16_28del r.(16_28del) - p.(Leu6Phefs*2) DNA deletion (VariO:0141) out-of-frame deletion (VariO:0321) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH - - - - - Unknown g.100630245_100630257del g.101375257_101375269del - - BTK_000376 - IDbase_AccNr: A0190 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - - - M - - - - 0 - - 1 Hans D. Ochs, Prof. Dr.
+?/. 2 c.29T>A r.(29u>a) - p.(Phe10Tyr) DNA substitution (VariO:0136);transversion (VariO:0316) RNA substitution (VariO:0312);transversion (VariO:0316);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - ttt -> tat; 2 Unknown g.100630244A>T g.101375256A>T - - BTK_000375 - PubMed: Toth, B 2009, IDbase_AccNr: A1370 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 2 PubMed: Toth, B (2009) - M - Romania - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.30dup r.(30dup) - p.(Leu11Serfs*31) DNA insertion (VariO:0142) out-of-frame insertion (VariO:0327) amphigoric amino acid indel (VariO:0023);protein truncation (VariO:0015) PH absent - inactive - - Unknown g.100630243dup g.101375255dup - - BTK_000374 - PubMed: Holinski-Feder, E 1998, IDbase_AccNr: A0327 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 2 PubMed: Holinski-Feder, E (1998) - M - - - - 0 - - 1 Dr. Michael Weiss
+/. 2 c.31C>T r.(?) pathogenic p.(=) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - - PH - - - - - Unknown g.100630242G>A - BTK(NM_000061.2):c.31C>T (p.L11=) - BTK_000922 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.32T>C r.(32u>c) - p.(Leu11Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - ctg -> ccg; 2 Unknown g.100630241A>G g.101375253A>G - - BTK_000373 - IDbase_AccNr: A0348 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - - - M - - - - 0 - - 1 Dr. Tracy Lester
+?/. 2 c.32T>C r.(32u>c) likely pathogenic (recessive) p.(Leu11Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - ctg -> ccg; 2 Maternal (confirmed) g.100630241A>G g.101375253A>G 164T>C - BTK_000373 mother is carrier PubMed: Wang, X. C 2005, PubMed: Wang, Y 2009, IDbase_AccNr: A1070 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P6 ref[1]; P1 ref[2] PubMed: Wang, X. C (2005) PubMed: Wang, Y (2009) - M - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.32T>C r.(32u>c) likely pathogenic (recessive) p.(Leu11Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - ctg -> ccg; 2 Unknown g.100630241A>G g.101375253A>G 164T>C - BTK_000373 - PubMed: Brooimans, R.A 1997, IDbase_AccNr: A0273 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Brooimans, R.A (1997) Relative in BTKbase: A0272; brother M - Netherlands - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.32T>C r.(32u>c) likely pathogenic (recessive) p.(Leu11Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - ctg -> ccg; 2 Unknown g.100630241A>G g.101375253A>G 164T>C - BTK_000373 - PubMed: Brooimans, R.A 1997, IDbase_AccNr: A0272 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 - PubMed: Brooimans, R.A (1997) Relative in BTKbase: A0273; brother M - Netherlands - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.32T>C r.(32u>c) - p.(Leu11Pro) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - - - - Maternal (confirmed) g.100630241A>G g.101375253A>G 164T>C - BTK_000373 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1768 - - Germline - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 102 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+?/. 2 c.35A>G r.(35a>g) - p.(Lys12Arg) DNA substitution (VariO:0136);transition (VariO:0313);purine transition (VariO:0315) RNA substitution (VariO:0312);transition (VariO:0313);purine transition (VariO:0315);missense variation (VariO:0308) amino acid substitution (VariO:0021) PH - - normal - aag -> agg; 2 Unknown g.100630238T>C g.101375250T>C A67->G - BTK_000372 - PubMed: Hashimoto, S 1996, IDbase_AccNr: A0294 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 P18 PubMed: Hashimoto, S (1996) - M - Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - IDbase_AccNr: A0561 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - - - - - - - - 0 - - 1 Dr. Mary-Ellen Conley
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Conley, M. E 1994, OMIM:var0008, IDbase_AccNr: A0080 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 2 PubMed: Conley, M. E (1994) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Conley, M. E 1994, OMIM:var0008, IDbase_AccNr: A0081 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 3 PubMed: Conley, M. E (1994) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Kanegane, H 2001, IDbase_AccNr: A1014 - - De novo - - - 0 - DNA ? - - XLA;AGMX-1 P31 PubMed: Kanegane, H (2001) - M - Japan Mongoloid - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH reduced - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A CGA>TGA [169] - BTK_000340 - PubMed: Vorechovsky, I 1997, IDbase_AccNr: A0224, ESID EL 0044 M78 G1 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 54 PubMed: Vorechovsky, I (1997) - M - Greece - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - IDbase_AccNr: A0811 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 - - A maternal brother diagnosed as possible XLA M - Spain Caucasoid - 0 - - 1 Dr. M. C. Garcia Rodriguez
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Conley, M. E 1995, IDbase_AccNr: A0250 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 Pt. 3.1 PubMed: Conley, M. E (1995) - M - - - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) likely pathogenic (recessive) p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Maternal (confirmed) g.100630236G>A g.101375248G>A 169C>T - BTK_000340 mother is carrier PubMed: Wang, Y 2009, IDbase_AccNr: A1310 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P2 PubMed: Wang, Y (2009) - - - China - - 0 - - 1 Gerard C.P. Schaafsma
+?/+? 2 c.37C>T r.(37c>u) likely pathogenic (recessive) p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A 169C>T - BTK_000340 - PubMed: Tani, S. M 2002, IDbase_AccNr: A0854 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P9-2 PubMed: Tani, S. M (2002) Relative in BTKbase: A0853; cousin M - Brazil - - 0 - - 1 Gerard C.P. Schaafsma
+?/+? 2 c.37C>T r.(37c>u) likely pathogenic (recessive) p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH 0.1% - - 1 cga -> tga; 1 Maternal (inferred) g.100630236G>A g.101375248G>A 169C>T - BTK_000340 - PubMed: Tani, S. M 2002, IDbase_AccNr: A0853 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 P9-1 PubMed: Tani, S. M (2002) Relative in BTKbase: A0854; cousin M - Brazil - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) likely pathogenic (recessive) p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A 169C>T - BTK_000340 - PubMed: Ritis, K 1998, PubMed: Speletas, M 2001, IDbase_AccNr: A0679 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 6 ref. 1; 1 ref. 2 PubMed: Ritis, K (1998) PubMed: Speletas, M (2001) - M - Greece - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Conley, M. E 2005, IDbase_AccNr: A1082 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 0210 164 PubMed: Conley, M. E (2005) - M ? (United States) - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Maternal (confirmed) g.100630236G>A g.101375248G>A C169>T - BTK_000340 mother is carrier PubMed: Haire, R. N (1997); IDbase_AccNr: A0280 - - Germline - - - 0 - DNA ? - - XLA;AGMX-1 P39 PubMed: Haire, R. N (1997) - M ? (United States) - - 0 - - 1 Dr. Gary W. Litman
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - 1 cga -> tga; 1 Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Zhang, X (2014); IDbase_AccNr: A1521 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 6 PubMed: Zhang, X (2014) - M ? China - - 0 - - 1 Gerard C.P. Schaafsma
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - - Unknown g.100630236G>A g.101375248G>A c.169C>T - BTK_000340 - PubMed: Singh 2016, IDbase_AccNr: A1667 - - Unknown - - - 0 - DNA ? - - XLA;AGMX-1 22 PubMed: Singh 2016 - M ? (India) - - 0 - - 1 Qing Wang
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - - Maternal (confirmed) g.100630236G>A g.101375248G>A 169C>T - BTK_000340 mother is carrier PubMed: Chen XF, 2016, IDbase_AccNr: A1761 - - Germline - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 93 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+?/. 2 c.37C>T r.(37c>u) - p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) RNA substitution (VariO:0312);transition (VariO:0313);pyrimidine transition (VariO:0314);nonsense variation (VariO:0310) protein truncation (VariO:0015) PH - - - - - Unknown g.100630236G>A g.101375248G>A - - BTK_000340 - PubMed: Chen XF, 2016, IDbase_AccNr: A1795 - - Unknown - - - 0 - DNA PCR, SEQ - - XLA;AGMX-1 153 PubMed: Chen XF 2016 - M ? China - - 0 - - 1 Qing Wang
+/. 2 c.37C>T r.(?) pathogenic p.(Arg13*) DNA substitution (VariO:0136);transition (VariO:0313);pyrimidine transition (VariO:0314) - protein truncation (VariO:0015) PH - - - - - Unknown g.100630236G>A - BTK(NM_000061.2):c.37C>T (p.R13*) - BTK_000340 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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