Full data view for gene CHRNB1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_000747.2 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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 at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-2455G>A r.(?) p.(=) Unknown - VUS g.7345992G>A g.7442673G>A FGF11(NM_004112.2):c.488G>A (p.(Arg163His)) - FGF11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.? - p.Gly264Aspfs* Unknown - NA g.? - - - CHRNB1_000000 expression cloning human CHRNB1 cDNA in HEK293 cells showed 0.03 expression PubMed: Quiram 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10 c.? - p.Glu449_Glu451delinsAlaAlaAla Unknown - NA g.? - - - CHRNB1_000000 expression cloning human CHRNB1 cDNA in HEK293 cells showed normal AChR assembly PubMed: Quiram 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 10 c.? - p.Glu449_Glu451delinsLysGlnLys Unknown - NA g.? - - - CHRNB1_000000 expression cloning human CHRNB1 cDNA in HEK293 cells showed normal AChR assembly PubMed: Quiram 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.? r.821_1044del p.Gly264Aspfs* Maternal (confirmed) - pathogenic g.? - RNA del ex8 - CHRNB1_000000 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Quiram 1999 2-generation family, affected girl and younger sister and brother F - - - >8y - - - 3 Johan den Dunnen
+/. 8 c.? r.821_1044del p.Gly264Aspfs* Parent #1 - pathogenic g.? - RNA del ex8 - CHRNB1_000000 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - - - PubMed: Quiram 1999 unaffected carrier mother 10562302-Pat1 F - - - - - - - 1 Johan den Dunnen
?/. _1_11_ c.? r.? p.? Parent #2 - VUS g.? - - - CHRNB1_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - patient has unaffected carrier father - - Germany - - - - - 1 Angela Abicht
?/. _1_11_ c.? r.? p.? Parent #2 - VUS g.? - - - CHRNB1_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
?/. _1_11_ c.? r.? p.? Parent #2 - VUS g.? - - - CHRNB1_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - patient has unaffected carrier father - - Germany - - - - - 2 Angela Abicht
?/. _1_11_ c.? r.? p.? Parent #2 - VUS g.? - - - CHRNB1_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
?/. _1_11_ c.? r.? p.? Parent #2 - VUS g.? - - - CHRNB1_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SEQ - - CMS - - patient has unaffected carrier father - - Germany - - - - - 1 Angela Abicht
?/. - c.53C>T r.(?) p.(Ala18Val) Unknown - VUS g.7348499C>T - CHRNB1(NM_000747.2):c.53C>T (p.A18V) - CHRNB1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.95A>G r.(?) p.(Glu32Gly) Unknown - benign g.7348625A>G g.7445306A>G CHRNB1(NM_000747.3):c.95A>G (p.E32G) - CHRNB1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.95A>G r.(?) p.(Glu32Gly) Unknown - benign g.7348625A>G g.7445306A>G A26G (E9G) - CHRNB1_000009 - PubMed: Sine 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS FamPat1 PubMed: Sine 1995 3-generation family, 5 affected (2F, 3M) F;M - Germany - - - - - 5 Johan den Dunnen
-/. 2 c.95A>G r.95a>g p.Glu32Gly Unknown - benign g.7348625A>G g.7445306A>G A26G (E9G) - CHRNB1_000009 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y - - - 1 Johan den Dunnen
-/. 2 c.95A>G r.(?) p.(=) Unknown - benign g.7348625A>G g.7445306A>G E9G - CHRNB1_000009 - PubMed: Ohno 1997 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - 2 Johan den Dunnen
-/. 2 c.95A>G r.(?) p.(Glu32Gly) Unknown - benign g.7348625A>G g.7445306A>G E9G - CHRNB1_000009 - PubMed: Ohno 1997 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 2-generation family, 2 affected brothers M - - - - - - - 2 Johan den Dunnen
-/. 2 c.95A>G r.95a>g p.Glu32Gly Maternal (confirmed) - benign g.7348625A>G g.7445306A>G E9G - CHRNB1_000009 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Quiram 1999 2-generation family, affected girl and younger sister and brother F - - - >8y - - - 3 Johan den Dunnen
-/. 2 c.95A>G r.95a>g p.Glu32Gly Parent #1 - benign g.7348625A>G g.7445306A>G E9G - CHRNB1_000009 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - - - PubMed: Quiram 1999 unaffected carrier mother 10562302-Pat1 F - - - - - - - 1 Johan den Dunnen
-/. 2 c.95A>G r.(?) p.(Glu32Gly) Unknown - benign g.7348625A>G g.7445306A>G A26G (E9G) - CHRNB1_000009 control chromosomes PubMed: Engel 1996 - - Germline - 37/120 - - - DNA SEQ - - - - PubMed: Engel 1996 - - - United States - - - - - 37 Johan den Dunnen
-/. 2 c.95A>G r.(?) p.(Glu32Gly) Unknown - benign g.7348625A>G g.7445306A>G A26G (E9G) - CHRNB1_000009 control chromosomes PubMed: Ohno 1997 - - Germline - 40/124 - - - DNA SEQ - - - - PubMed: Ohno 1997 - - - United States - - - - - 40 Johan den Dunnen
?/. 2 c.113A>G r.(?) p.(Tyr38Cys) Parent #1 - VUS g.7348643A>G g.7445324A>G - - CHRNB1_000013 variant of unknown significance - - - Germline - - - - - DNA SEQ - - CMS - - patient has unaffected carrier father - - Germany - - - - - 1 Angela Abicht
?/. 2 c.113A>G r.(?) p.(Tyr38Cys) Parent #1 - VUS g.7348643A>G g.7445324A>G - - CHRNB1_000013 variant of unknown significance - - - Germline - - - - - DNA SEQ - - - - - unaffected carrier father of MGZ-CHRNB1_02 F - Germany - - - - - 1 Angela Abicht
?/. 2 c.113A>G r.(?) p.(Tyr38Cys) Parent #1 - VUS g.7348643A>G g.7445324A>G - - CHRNB1_000013 variant of unknown significance - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
-?/. - c.181G>A r.(?) p.(Ala61Thr) Unknown - likely benign g.7348711G>A - CHRNB1(NM_000747.2):c.181G>A (p.(Ala61Thr)) - CHRNB1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.221G>T r.(?) p.(Ser74Ile) Unknown - likely benign g.7349410G>T - CHRNB1(NM_000747.2):c.221G>T (p.(Ser74Ile)) - CHRNB1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.275C>T r.(?) p.(Pro92Leu) Unknown - VUS g.7350183C>T - - - CHRNB1_000047 - - - rs1908654291 Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342G>A r.(?) p.(Val114=) Unknown - likely benign g.7350250G>A - CHRNB1(NM_000747.3):c.342G>A (p.V114=) - CHRNB1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.391G>A r.(?) p.(Val131Ile) Unknown - VUS g.7350399G>A - CHRNB1(NM_000747.2):c.391G>A (p.(Val131Ile)) - CHRNB1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.398T>C r.(?) p.(Val133Ala) Unknown - VUS g.7350406T>C - CHRNB1(NM_000747.3):c.398T>C (p.(Val133Ala)) - CHRNB1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.471C>A r.(?) p.(Tyr157*) Parent #1 - pathogenic g.7350830C>A g.7447511C>A - - CHRNB1_000017 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.476C>G r.(?) p.(Pro159Arg) Unknown ACMG VUS (!) g.7350835C>G - - - CHRNB1_000033 ACMG: PM2_sup, PP3: class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - CMS2C 175385 - - M ? Germany - - - - - 1 Andreas Laner
?/. 6 c.480C>A r.(?) p.(Phe160Leu) Unknown - VUS g.7350839C>A g.7447520C>A - - CHRNB1_000034 - - - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1300 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
+/. 6 c.516C>G r.(?) p.(Tyr172*) Parent #2 - pathogenic g.7350875C>G g.7447556C>G 513C>G (Y149X) - CHRNB1_000012 - predicted consequence low expressor mutation, no experimental proof - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
-?/. - c.564C>T r.(?) p.(Asp188=) Unknown - likely benign g.7350923C>T - CHRNB1(NM_000747.3):c.564C>T (p.D188=) - CHRNB1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.610+6T>C r.= p.= Unknown - benign g.7350975T>C g.7447656T>C T541+6C - CHRNB1_000006 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y - - - 1 Johan den Dunnen
-/. 6i c.610+6T>C r.(?) p.(=) Unknown - benign g.7350975T>C g.7447656T>C T541+6C - CHRNB1_000006 - PubMed: Ohno 1997 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - 2 Johan den Dunnen
-/. 6i c.610+6T>C r.= p.= Paternal (confirmed) - benign g.7350975T>C g.7447656T>C IVS6+6T>C - CHRNB1_000006 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Quiram 1999 2-generation family, affected girl and younger sister and brother F - - - >8y - - - 3 Johan den Dunnen
-/. 6i c.610+6T>C r.= p.= Parent #1 - benign g.7350975T>C g.7447656T>C IVS6+6T>C - CHRNB1_000006 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - - - PubMed: Quiram 1999 unaffected carrier father 10562302-Pat1 M - - - - - - - 1 Johan den Dunnen
-/. 6i c.610+6T>C r.(?) p.(=) Unknown - benign g.7350975T>C g.7447656T>C T541+6C - CHRNB1_000006 control chromosomes PubMed: Engel 1996 - - Germline - 13/54 - - - DNA SEQ - - - - PubMed: Engel 1996 - - - United States - - - - - 13 Johan den Dunnen
-/. 6i c.610+6T>C r.(?) p.(=) Unknown - benign g.7350975T>C g.7447656T>C T541+6C - CHRNB1_000006 control chromosomes PubMed: Ohno 1997 - - Germline - 13/58 - - - DNA SEQ - - - - PubMed: Ohno 1997 - - - United States - - - - - 13 Johan den Dunnen
-/. 6i c.611-62A>G r.= p.= Paternal (confirmed) - benign g.7351836A>G g.7448517A>G IVS6-62A>G - CHRNB1_000007 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Quiram 1999 2-generation family, affected girl and younger sister and brother F - - - >8y - - - 3 Johan den Dunnen
-/. 6i c.611-62A>G r.= p.= Parent #1 - benign g.7351836A>G g.7448517A>G IVS6-62A>G - CHRNB1_000007 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - - - PubMed: Quiram 1999 unaffected carrier father 10562302-Pat1 M - - - - - - - 1 Johan den Dunnen
?/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - VUS g.7351934G>A - CHRNB1(NM_000747.2):c.647G>A (p.R216Q), CHRNB1(NM_000747.3):c.647G>A (p.R216Q) - CHRNB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - VUS g.7351934G>A - CHRNB1(NM_000747.2):c.647G>A (p.R216Q), CHRNB1(NM_000747.3):c.647G>A (p.R216Q) - CHRNB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.647G>A r.(?) p.(Arg216Gln) Unknown - VUS g.7351934G>A - CHRNB1(NM_000747.2):c.647G>A (p.R216Q), CHRNB1(NM_000747.3):c.647G>A (p.R216Q) - CHRNB1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.727C>T r.(?) p.(Arg243Cys) Unknown - pathogenic g.7352014C>T g.7448695C>T - - CHRNB1_000004 - PubMed: M¸ller 2007 - - Germline - - - - - DNA SEQ - - ? - PubMed: M¸ller 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 7 c.727C>T r.(?) p.(Arg243Cys) Parent #1 - pathogenic g.7352014C>T g.7448695C>T 724C>T (R220C) - CHRNB1_000004 - predicted consequence low expressor mutation, no experimental proof - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
?/. - c.728G>A r.(?) p.(Arg243His) Unknown - VUS g.7352015G>A - CHRNB1(NM_000747.3):c.728G>A (p.(Arg243His)) - CHRNB1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791T>C r.(?) p.(Ile264Thr) Unknown - VUS g.7352078T>C - - - CHRNB1_000038 - - - rs756024598 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.814G>C r.(?) p.(Asp272His) Unknown - VUS g.7352101G>C - CHRNB1(NM_000747.2):c.814G>C (p.D272H) - CHRNB1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.821-1006C>T - - Parent #1 - pathogenic (dominant) g.7356610C>T - - - CHRNB1_000018 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Ulirsch 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES DBA 30503522-PatDBA100 PubMed: Ulirsch 2018 singleton DBA case - - - - - - - - 1 Johan den Dunnen
-/. - c.821-9C>T r.(=) p.(=) Unknown - benign g.7357607C>T g.7454288C>T CHRNB1(NM_000747.3):c.821-9C>T - CHRNB1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(820+1_821-1)_(1044+1_1045-1)del r.? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.(7352108_7357615)_(7357840_7358602)del g.(7448789_7454296)_(7454521_7455283)del - - CHRNB1_000028 - PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - Germline - - - - - DNA SEQ - - LMPS D15-1251 PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - - - Australia - - - - - 1 Gianina Ravenscroft
?/. - c.821G>A r.(?) p.(Gly274Glu) Unknown - VUS g.7357616G>A - CHRNB1(NM_000747.2):c.821G>A (p.(Gly274Glu)) - CHRNB1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.853C>A r.(?) p.Leu285Met Unknown - NA g.7357648C>A g.7454329C>A - - CHRNB1_000001 expression cloning mouse CHRNB1 cDNA in Xenopus oocytes 8x increased channel open time PubMed: Gomez 1996 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.853C>A r.(?) p.(Leu285Met) Parent #1 - pathogenic g.7357648C>A g.7454329C>A C>A (L263M) - CHRNB1_000001 not in 200 control chromosomes; de novo, in patient PubMed: Gomez 1996 - - De novo - - - - - DNA SEQ, SSCA - - CMS - PubMed: Gomez 1996 2-generation family, unaffected parents/siblings - - United States - >32y - - - 1 Johan den Dunnen
+/. 8 c.863C>G r.(?) p.(Thr288Ser) Parent #1 - pathogenic g.7357658C>G g.7454339C>G T265S - CHRNB1_000011 predicted consequence slow channel mutation PubMed: Chaouch 2011 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Chaouch 2011 daugther of 21822932-Pat09 F - Serbia - >47y - - - 1 Angela Abicht
+/. 8 c.863C>G r.(?) p.(Thr288Ser) Parent #1 - pathogenic g.7357658C>G g.7454339C>G T265S - CHRNB1_000011 predicted consequence slow channel mutation PubMed: Chaouch 2011 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Chaouch 2011 mother of 21822932-Pat08 F - Serbia - >73y - - - 1 Angela Abicht
+/. 8 c.865G>A r.865g>a p.Val289Met Unknown - NA g.7357660G>A g.7454341G>A G796A (V266M) - CHRNB1_000002 expression cloning mouse CHRNB1 cDNA in HEK293 cells showed prolonged channel open intervals/bursts and spontaneous channel openings, increased affinity for ACh PubMed: Engel 1996 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.865G>A r.865g>a p.Val289Met Unknown - pathogenic g.7357660G>A g.7454341G>A G796A (V266M) - CHRNB1_000002 not in 102 CMS/200 control chromosomes PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 3-generation family, affected girl F - United States - >19y - - - 1 Johan den Dunnen
+/. 8 c.865G>A r.(?) p.(Val289Met) Parent #1 - pathogenic g.7357660G>A g.7454341G>A V266M - CHRNB1_000002 - PubMed: Mihaylova 2010, PubMed: Chaouch 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Mihaylova 2010, PubMed: Chaouch 2011 3-generation family, affected girl M no Portugal;Lebanon - >31y - - - 1 Johan den Dunnen
+/. 8 c.865G>A r.(?) p.(Val289Met) Parent #1 - pathogenic g.7357660G>A g.7454341G>A V266M - CHRNB1_000002 predicted consequence slow channel mutation - - - Germline - - - - - DNA SEQ - - CMS - - found heterozygously in patient with no family history - - Germany - - - - - 1 Angela Abicht
+?/. 8 c.866T>C r.(?) p.(Val289Ala) Unknown - likely pathogenic g.7357661T>C g.7454342T>C - - CHRNB1_000016 - - - - De novo - - - - - DNA PCR, SEQ - - CMS - - - M - United States - - - - - 1 Tom Winder
?/. - c.959C>T r.(?) p.(Thr320Ile) Unknown - VUS g.7357754C>T - CHRNB1(NM_000747.2):c.959C>T (p.(Thr320Ile)) - CHRNB1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.980T>A r.(?) p.(Val327Asp) Both (homozygous) - VUS g.7357775T>A g.7454456T>A - - CHRNB1_000000 - - - - Uniparental disomy, maternal allele - - - - - DNA ? - Whole Exome Sequencing CMS2A - - - F no Brazil - - - - - 1 Raul Barbosa
-?/. - c.1045-6C>G r.(=) p.(=) Unknown - likely benign g.7358597C>G g.7455278C>G CHRNB1(NM_000747.3):c.1045-6C>G - CHRNB1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1126T>C r.(?) p.(Cys376Arg) Unknown - VUS g.7358684T>C - CHRNB1(NM_000747.2):c.1126T>C (p.C376R) - CHRNB1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1249_1250del r.(?) p.(Arg417AlafsTer98) Unknown - VUS g.7359144_7359145del - CHRNB1(NM_000747.2):c.1249_1250delCG (p.R417Afs*98) - CHRNB1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10 c.1259T>C r.(?) p.(Ile420Thr) Parent #1 - VUS g.7359154T>C g.7455835T>C 1256T>C (I419T) - CHRNB1_000014 variant of unknown significance - - - Germline - - - - - DNA SEQ - - CMS - - patient has unaffected carrier father - - Germany - - - - - 2 Angela Abicht
?/. 10 c.1259T>C r.(?) p.(Ile420Thr) Parent #1 - VUS g.7359154T>C g.7455835T>C 1256T>C (I419T) - CHRNB1_000014 variant of unknown significance - - - Germline - - - - - DNA SEQ - - - - - unaffected carrier father of MGZ-CHRNB1_04 M - Germany - - - - - 1 Angela Abicht
?/. 10 c.1259T>C r.(?) p.(Ile420Thr) Parent #1 - VUS g.7359154T>C g.7455835T>C 1256T>C (I419T) - CHRNB1_000014 variant of unknown significance - - - Germline - - - - - DNA SEQ - - CMS - - - - - Germany - - - - - 1 Angela Abicht
-?/. - c.1259T>C r.(?) p.(Ile420Thr) Unknown - likely benign g.7359154T>C g.7455835T>C CHRNB1(NM_000747.3):c.1259T>C (p.(Ile420Thr)) - CHRNB1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.(1345_1356del) r.(?) p.Glu449_Asp452del Unknown - NA g.7359240_7359251del g.7455921_7455932del - - CHRNB1_000000 expression cloning human CHRNB1 cDNA in HEK293 cells showed impaired interaction between beta/delta subunits receptor assembly PubMed: Quiram 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.(1345_1362del) - p.Glu449_Asp454del Unknown - NA g.7359240_7359257del - - - CHRNB1_000000 expression cloning human CHRNB1 cDNA in HEK293 cells showed impaired interaction between beta/delta subunits receptor assembly Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Quiram 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.(1347_1352del) r.(?) p.Glu449_Gln450del Unknown - NA g.7359242_7359247del g.7455923_7455928del - - CHRNB1_000000 expression cloning human CHRNB1 cDNA in HEK293 cells showed impaired interaction between beta/delta subunits receptor assembly PubMed: Quiram 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1347_1355del r.(?) p.Glu449_Glu451del Unknown - NA g.7359242_7359250del g.7455923_7455931del - - CHRNB1_000003 expression cloning human CHRNB1 cDNA in HEK293 cells showed 0.30 expression and impaired interaction between beta/delta subunits receptor assembly PubMed: Quiram 1999 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1347_1355del r.1347_1355del p.Glu449_Glu451del Paternal (confirmed) - pathogenic g.7359242_7359250del g.7455923_7455931del 1276-1284del (426delEQE) - CHRNB1_000003 not in 200 control chromosomes PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Quiram 1999 2-generation family, affected girl and younger sister and brother F - - - >8y - - - 3 Johan den Dunnen
+/. 10 c.1347_1355del r.1347_1355del p.Glu449_Glu451del Parent #1 - pathogenic g.7359242_7359250del g.7455923_7455931del 1276-1284del (426delEQE) - CHRNB1_000003 not in 200 control chromosomes PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - - - PubMed: Quiram 1999 unaffected carrier father 10562302-Pat1 M - - - - - - - 1 Johan den Dunnen
-/. 10i c.1365+17T>C r.= p.= Unknown - benign g.7359277T>C g.7455958T>C T1296+17C - CHRNB1_000010 - PubMed: Engel 1996 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SSCA - - CMS - PubMed: Engel 1996 2-generation family, affected boy M - United States - >16y - - - 1 Johan den Dunnen
-/. 10i c.1365+17T>C r.(?) p.(=) Unknown - benign g.7359277T>C g.7455958T>C T1296+17C - CHRNB1_000010 - PubMed: Ohno 1997 - - Germline - - - - - DNA SEQ - - CMS - PubMed: Ohno 1997 3-generation family, affected brother/sister - - - - - - - - 2 Johan den Dunnen
-/. 10i c.1365+17T>C r.(?) p.(=) Unknown - benign g.7359277T>C g.7455958T>C T1296+17C - CHRNB1_000010 control chromosomes PubMed: Engel 1996 - - Germline - 13/60 - - - DNA SEQ - - - - PubMed: Engel 1996 - - - United States - - - - - 13 Johan den Dunnen
-/. 10i c.1365+17T>C r.(?) p.(=) Unknown - benign g.7359277T>C g.7455958T>C T1296+17C - CHRNB1_000010 control chromosomes PubMed: Ohno 1997 - - Germline - 13/64 - - - DNA SEQ - - - - PubMed: Ohno 1997 - - - United States - - - - - 13 Johan den Dunnen
-/. 10 c.1366-145G>A r.= p.= Paternal (confirmed) - benign g.7359757G>A g.7456438G>A IVS10-145G>A - CHRNB1_000008 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CMS - PubMed: Quiram 1999 2-generation family, affected girl and younger sister and brother F - - - >8y - - - 3 Johan den Dunnen
-/. 10 c.1366-145G>A r.= p.= Parent #1 - benign g.7359757G>A g.7456438G>A IVS10-145G>A - CHRNB1_000008 - PubMed: Quiram 1999 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - - - PubMed: Quiram 1999 unaffected carrier father 10562302-Pat1 M - - - - - - - 1 Johan den Dunnen
+/. - c.1418G>A r.(?) p.(Trp473Ter) Unknown - pathogenic g.7359954G>A - CHRNB1(NM_000747.2):c.1418G>A (p.W473*) - CHRNB1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1472C>T r.(?) p.(Thr491Met) Unknown - VUS g.7360008C>T - CHRNB1(NM_000747.2):c.1472C>T (p.(Thr491Met)) - CHRNB1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5569C>T r.(=) p.(=) Unknown - likely benign g.7365611C>T g.7462292C>T ZBTB4(NM_001128833.1):c.2690G>A (p.(Gly897Glu)) - ZBTB4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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