Full data view for gene UPF3B

Information The variants shown are described using the NM_080632.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.52A>C r.(?) p.(Thr18Pro) Unknown - VUS g.118986840T>G g.119852877T>G UPF3B(NM_023010.3):c.52A>C (p.(Thr18Pro)) - UPF3B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56C>G r.(?) p.(Pro19Arg) Unknown - VUS g.118986836G>C - UPF3B(NM_080632.2):c.56C>G (p.P19R) - UPF3B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.146C>T r.(?) p.(Ala49Val) Unknown - likely benign g.118986746G>A g.119852783G>A UPF3B(NM_023010.3):c.146C>T (p.(Ala49Val)) - UPF3B_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.157-1G>A r.spl? p.? Unknown - likely pathogenic g.118985837C>T - - - chrX_018830 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.197A>G r.(?) p.(Gln66Arg) Unknown - benign g.118985796T>C g.119851833T>C UPF3B(NM_080632.2):c.197A>G (p.Q66R) - UPF3B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.250del r.(?) p.(Ser84Leufs*47) Unknown - likely pathogenic g.118985743del g.119851780del - - UPF3B_000029 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5410747 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.255T>C r.(?) p.(Asn85=) Unknown - likely benign g.118985738A>G - UPF3B(NM_080632.2):c.255T>C (p.N85=) - UPF3B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.263+2del r.spl? p.? Unknown - benign g.118985728del g.119851765del UPF3B(NM_080632.2):c.263+2delT - UPF3B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.263+3_263+18dup r.spl? p.? Unknown - likely benign g.118985712_118985727dup - UPF3B(NM_080632.2):c.263+3_263+18dupAAAAAAAAAAAAAAAA - UPF3B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2i c.263+19delA r.(?) p.(=) Maternal (inferred) - VUS g.118985711del g.119851748delT - - UPF3B_000009 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 2i c.263+19delA r.(?) p.(=) Maternal (inferred) - VUS g.118985711del g.119851748delT - - UPF3B_000009 Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message. - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.352G>A r.(?) p.(Val118Ile) Unknown - likely benign g.118985476C>T - UPF3B(NM_080632.2):c.352G>A (p.V118I) - UPF3B_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.397T>C r.(?) p.(Phe133Leu) Unknown - VUS g.118979233A>G g.119845270A>G - - UPF3B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494A>T r.(?) p.(Glu165Val) Unknown - likely benign g.118977240T>A g.119843277T>A UPF3B(NM_080632.2):c.494A>T (p.E165V), UPF3B(NM_080632.3):c.494A>T (p.E165V) - UPF3B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.494A>T r.(?) p.(Glu165Val) Unknown - VUS g.118977240T>A - UPF3B(NM_080632.2):c.494A>T (p.E165V), UPF3B(NM_080632.3):c.494A>T (p.E165V) - UPF3B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.674_677del r.(?) p.(Arg225Lysfs*22) Parent #1 - VUS g.118975174_118975177del g.119841211_119841214del - - UPF3B_000002 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX 19377141-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.674_677del r.(?) p.(Arg225Lysfs*22) Unknown - pathogenic g.118975174_118975177del - UPF3B(NM_080632.2):c.674_677delGAAA (p.R225Kfs*22) - UPF3B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.674_677del r.(?) p.(Arg225Lysfs*22) Unknown - pathogenic g.118975174_118975177del - UPF3B(NM_080632.2):c.674_677delGAAA (p.R225Kfs*22) - UPF3B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701G>A r.(?) p.(Arg234Lys) Unknown - VUS g.118975145C>T - UPF3B(NM_080632.3):c.701G>A (p.R234K) - UPF3B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.762_765del r.(?) p.(Asp254Glufs*8) Unknown - likely pathogenic g.118975081_118975084del g.119841118_119841121del - - UPF3B_000028 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411299 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.764G>A r.(?) p.(Arg255Lys) Unknown - likely benign g.118975082C>T g.119841119C>T UPF3B(NM_080632.2):c.764G>A (p.R255K) - UPF3B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.883T>C r.(?) p.(Leu295=) Unknown - likely benign g.118972454A>G - UPF3B(NM_080632.3):c.883T>C (p.L295=) - UPF3B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 9 c.906_907del r.(?) p.(Lys303Ilefs*8) Parent #1 - VUS g.118972431_118972432del g.119838468_119838469del NM_023010.2:c.867_868delAG (G290Rfs*2) - UPF3B_000003 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX 19377142-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/? 9 c.918A>G r.(?) p.(=) Parent #1 - VUS g.118972419T>C g.119838456T>C NM_023010.2:c.879A>G (K293K) - UPF3B_000004 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX 19377143-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.1060C>T r.(?) p.(Arg354*) Unknown - pathogenic g.118971962G>A - - - UPF3B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1073G>A r.(?) p.(Arg358His) Unknown - likely benign g.118971949C>T g.119837986C>T UPF3B(NM_080632.2):c.1073G>A (p.R358H) - UPF3B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1101G>C r.(?) p.(Lys367Asn) Unknown - likely pathogenic g.118971921C>G g.119837958C>G - - UPF3B_000005 - PubMed: Tzschach 2015 - - Germline ? - - - - DNA SEQ - - MRX;IDX Fam12 PubMed: Tzschach 2015 - M - - ? - - - - 1 Andreas Tzschach
-?/. - c.1118G>A r.(?) p.(Arg373His) Unknown - likely benign g.118971904C>T g.119837941C>T UPF3B(NM_023010.3):c.1079G>A (p.(Arg360His)), UPF3B(NM_080632.2):c.1118G>A (p.R373H) - UPF3B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1118G>A r.(?) p.(Arg373His) Unknown - VUS g.118971904C>T - UPF3B(NM_023010.3):c.1079G>A (p.(Arg360His)), UPF3B(NM_080632.2):c.1118G>A (p.R373H) - UPF3B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120C>T r.(?) p.(Arg374Cys) Unknown - VUS g.118971902G>A - UPF3B(NM_080632.2):c.1120C>T (p.R374C) - UPF3B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1121G>A r.(?) p.(Arg374His) Unknown - VUS g.118971901C>T g.119837938C>T UPF3B(NM_023010.3):c.1082G>A (p.(Arg361His)), UPF3B(NM_080632.2):c.1121G>A (p.R374H) - UPF3B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1121G>A r.(?) p.(Arg374His) Parent #1 - VUS g.118971901C>T g.119837938C>T - - UPF3B_000010 conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143538947 Germline - 7/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
-?/. - c.1121G>A r.(?) p.(Arg374His) Unknown - likely benign g.118971901C>T - UPF3B(NM_023010.3):c.1082G>A (p.(Arg361His)), UPF3B(NM_080632.2):c.1121G>A (p.R374H) - UPF3B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1136G>A r.(?) p.(Arg379His) Unknown - likely benign g.118971886C>T g.119837923C>T UPF3B(NM_080632.2):c.1136G>A (p.R379H) - UPF3B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1178T>C r.(?) p.(Met393Thr) Unknown - likely benign g.118971844A>G g.119837881A>G UPF3B(NM_080632.2):c.1178T>C (p.M393T) - UPF3B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1204G>T r.(?) p.(Asp402Tyr) Unknown - VUS g.118971818C>A - UPF3B(NM_080632.2):c.1204G>T (p.D402Y) - UPF3B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1288C>T r.(?) p.(Arg430Ter) Unknown - pathogenic g.118971734G>A g.119837771G>A - - UPF3B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10i c.1302+141dup r.(=) p.(=) Maternal (inferred) - VUS g.118971598dup g.119837635dup - - UPF3B_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 10i c.1302+142del r.(?) p.(=) Maternal (inferred) - VUS g.118971578del g.119837615del - - UPF3B_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 10i c.1303-85T>G r.(?) p.(=) Both (homozygous) - VUS g.118969075A>C g.119835112A>C - - UPF3B_000006 - PubMed: Almomani 2011 - rs2239963 Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
./. - c.1310del r.(?) p.(Pro437Glnfs*54) Maternal (confirmed) - pathogenic g.118968984del g.119835021del UPF3B P437Qfs*47 - UPF3B_000019 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamP4 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - - - - 3 Johan den Dunnen
?/? 11 c.1327C>T r.(?) p.(Arg443*) Parent #1 - VUS g.118968966G>A g.119835003G>A NM_023010.2:c.1288C>T (R430*) - UPF3B_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX 19377140-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
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