Full data view for gene GJB4

Information The variants shown are described using the NM_153212.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-2665C>T r.(?) p.(=) Unknown - VUS g.35223047C>T - GJB5(NM_005268.4):c.116C>T (p.(Thr39Met)) - GJB4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2615C>T r.(?) p.(=) Unknown - likely benign g.35223097C>T - GJB5(NM_005268.4):c.166C>T (p.(Arg56Cys)) - GJB4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-43C>G r.(?) p.(=) Unknown - benign g.35226813C>G g.34761212C>G - - GJB4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.35G>A r.(?) p.(Gly12Asp) Parent #1 - pathogenic g.35226890G>A g.34761289G>A - - GJB4_000003 - PubMed: Richard 2003, OMIM:var0004 - - Germline yes - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 16 Michel van Geel
+/. - c.35G>A r.(?) p.(Gly12Asp) Unknown - pathogenic g.35226890G>A g.34761289G>A GJB4(NM_153212.3):c.35G>A (p.G12D) - GJB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.35G>A r.(?) p.(Gly12Asp) Unknown - pathogenic g.35226890G>A - GJB4(NM_153212.3):c.35G>A (p.G12D) - GJB4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.65G>A r.(?) p.(RArg22His) Parent #1 - pathogenic g.35226920G>A g.34761319G>A - - GJB4_000006 - PubMed: Richard 2003, OMIM:var0005 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. - c.65G>A r.(?) p.(Arg22His) Parent #1 - pathogenic g.35226920G>A g.34761319G>A - - GJB4_000006 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80358212 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.67A>T r.(?) p.(Ile23Phe) Unknown - likely benign g.35226922A>T g.34761321A>T GJB4(NM_153212.3):c.67A>T (p.I23F) - GJB4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175G>A r.(?) p.(Gly59Ser) Unknown - VUS g.35227030G>A - GJB4(NM_153212.3):c.175G>A (p.G59S) - GJB4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.178T>G r.(?) p.(Cys60Gly) Unknown - likely benign g.35227033T>G - GJB4(NM_153212.3):c.178T>G (p.C60G) - GJB4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.253A>C r.(?) p.(Thr85Pro) Parent #1 - pathogenic g.35227108A>C g.34761507A>C - - GJB4_000002 - PubMed: Richard 2003, OMIM:var0003 - - Germline yes - - - - DNA SEQ - - EKVP1 - - 4-generation family, 16 affecteds - - - - - - - - 16 Michel van Geel
-?/. - c.371G>A r.(?) p.(Arg124Gln) Unknown - likely benign g.35227226G>A - GJB4(NM_153212.3):c.371G>A (p.R124Q) - GJB4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.384G>A r.(?) p.(Trp128*) Unknown - likely benign g.35227239G>A - GJB4(NM_153212.3):c.384G>A (p.(Trp128Ter)) - GJB4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386G>A r.(?) p.(Trp129Ter) Unknown - VUS g.35227241G>A g.34761640G>A GJB4(NM_153212.3):c.386G>A (p.W129*) - GJB4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.409T>C r.(?) p.(Phe137Leu) Parent #1 - pathogenic g.35227264T>C g.34761663T>C - - GJB4_000001 - PubMed: Macari 2000, OMIM:var0001 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
+/. 2 c.409T>C r.(?) p.(Phe137Leu) Parent #1 - pathogenic g.35227264T>C g.34761663T>C - - GJB4_000001 - {PMID:Richard 2003, {OMIM605425:12648223:0001} - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 3 Michel van Geel
+/. 2 c.411C>A r.(?) p.(F137L) Parent #1 - pathogenic g.35227266C>A g.34761665C>A - - GJB4_000004 - PubMed: Richard 2003, OMIM:var0002 - - De novo - - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
-?/. - c.478C>T r.(?) p.(Arg160Cys) Unknown - likely benign g.35227333C>T - GJB4(NM_153212.3):c.478C>T (p.R160C) - GJB4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.542del r.(?) p.(Thr181Argfs*11) Unknown - likely benign g.35227397del - GJB4(NM_153212.3):c.542del (p.(Thr181ArgfsTer11)) - GJB4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.566T>A r.(?) p.(Phe189Tyr) Parent #1 - pathogenic g.35227421T>A g.34761820T>A - - GJB4_000005 - PubMed: Richard 2003, OMIM:var0006 - - Unknown ? - - - - DNA SEQ - - EKVP1 - - - - - - - - - - - 1 Michel van Geel
-/. - c.611A>C r.(?) p.(Glu204Ala) Parent #1 - benign g.35227466A>C g.34761865A>C - - GJB4_000020 115 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3738346 Germline - 115/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 115 Mohammed Faruq
-/. - c.611A>C r.(?) p.(Glu204Ala) Both (homozygous) - benign g.35227466A>C g.34761865A>C - - GJB4_000020 11 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3738346 Germline - 11/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 11 Mohammed Faruq
?/. - c.770C>A r.(?) p.(Ser257*) Unknown - VUS g.35227625C>A - GJB4(NM_153212.3):c.770C>A (p.(Ser257*)) - GJB4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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