Full data view for gene GJB2

Information The variants shown are described using the NM_004004.5 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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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     
+/+ 2 c.71G>A r.(?) p.(Trp24*) Both (homozygous) - pathogenic g.20763650C>T g.20189511C>T - - GJB2_000003 - - - rs104894396 Germline yes - - - - DNA SEQ - - DFNB;ARNSHL - - 4 families, 10 affecteds - - Pakistan - - - - - 10 Atteeq Rehman
+/+ 2 c.71G>A r.(?) p.(Trp24*) Both (homozygous) - pathogenic g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Falk 2012, Journal: Falk 2012 - - Germline yes - - - - DNA SEQ - - DFNB1A, LCA - PubMed: Falk 2012; Journal: Falk 2012 4-generation family seggregating LCA and hearing loss, 7 affecteds (2 LCA, 2 hearing loss, 3 both), unaffected heterozygous carrier parents/sibs - yes Pakistan - - - - - 7 Johan den Dunnen
+?/+ 2 c.71G>A r.(?) p.(Trp24*) Parent #2 - likely pathogenic g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - - - DNA SEQ-NG - - deafness - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - - - - 1 Mieke Wesdorp
+/. 2 c.71G>A r.(?) p.(Trp24*) Both (homozygous) - pathogenic g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Baux 2017, Journal: Baux 2017 - rs104894396 Germline/De novo (untested) - - - - - DNA SEQ - - deafness S1606 PubMed: Baux 2017, Journal: Baux 2017 Proband F ? France - - - - - 1 David Baux
+/. - c.71G>A r.(?) p.(Trp24*) Parent #1 - pathogenic g.20763650C>T g.20189511C>T - - GJB2_000003 32 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs104894396 Germline - 32/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 32 Mohammed Faruq
+/. - c.71G>A r.(?) p.(Trp24Ter) Unknown - pathogenic g.20763650C>T g.20189511C>T GJB2(NM_004004.6):c.71G>A (p.W24*, p.(Trp24Ter)) - GJB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.71G>A r.(?) p.(Trp24*) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.71G>A r.(?) p.(Trp24*) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.71G>A r.(?) p.(Trp24*) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.71G>A r.(?) p.(Trp24*) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.71G>A r.(?) p.(Trp24*) Parent #1 - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Shaikh 2017 - - Germline - - - - - DNA SEQ - - deafness - PubMed: Shaikh 2017 analysis 150 non-familial hearing impaired children - - Pakistan - - - - - 1 LOVD
+/. - c.71G>A r.(?) p.(Trp24*) Both (homozygous) ACMG pathogenic g.20763650C>T - - - GJB2_000003 - - - - Germline - - - - - DNA SEQ-NG - - WS - - - - - - - - - - - 1 Anju Shukla
+/. 2 c.71G>A r.(?) p.(Trp24*) Unknown - pathogenic g.20763650C>T - c.71G>A (p.Trp24*) - GJB2_000003 - PubMed: Hull-2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Patient 1 PubMed: Hull-2016 - F yes - Indian - - - - 1 LOVD
+/. 2 c.71G>A r.(?) p.(Trp24*) Both (homozygous) - pathogenic g.20763650C>T - c.71G>A (p.Trp24*) - GJB2_000003 - PubMed: Hull-2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Patient 3 PubMed: Hull-2016 - F yes - Indian - - - - 1 LOVD
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) ACMG pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 ACMG PVS1, PM1, PP3, PP5 PubMed: Marinakis 2021 - rs104894396 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 8016 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4307 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4339 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4346 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4351 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4409 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4550 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4573 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4583 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4656 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4717 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4438A PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4866 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4981 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF021 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Parent #1 - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF936 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF939 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1368 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1553 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1655 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL PKDF1760 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Parent #2 - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Richard 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - HL DEM4582 PubMed: Richard 2019 - - yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Kelsell 1997, PubMed: Naz 2017 - rs104894396 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAI-02 PubMed: Kelsell 1997, PubMed: Naz 2017 family, 8 affected - - Pakistan Punjab - - - - 8 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Kelsell 1997, PubMed: Naz 2017 - rs104894396 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAI-12 PubMed: Kelsell 1997, PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - 3 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Kelsell 1997, PubMed: Naz 2017 - rs104894396 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLGM25 PubMed: Kelsell 1997, PubMed: Naz 2017 family, 5 affected - - Pakistan Punjab - - - - 5 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Kelsell 1997, PubMed: Naz 2017 - rs104894396 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLMS16 PubMed: Kelsell 1997, PubMed: Naz 2017 family, 2 affected - - Pakistan Punjab - - - - 2 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Both (homozygous) - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Kelsell 1997, PubMed: Naz 2017 - rs104894396 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLMS34 PubMed: Kelsell 1997, PubMed: Naz 2017 family, 2 affected - - Pakistan Punjab - - - - 2 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Parent #1 - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Kelsell 1997, PubMed: Naz 2017 - rs104894396 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLRB8 PubMed: Kelsell 1997, PubMed: Naz 2017 family, 6 affected - - Pakistan Punjab - - - - 6 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Parent #1 - pathogenic (recessive) g.20763650C>T g.20189511C>T - - GJB2_000003 - PubMed: Kelsell 1997, PubMed: Naz 2017 - rs104894396 Germline - - - - - DNA SEQ, SEQ-NG - - HL HLAM09 PubMed: Kelsell 1997, PubMed: Naz 2017 family, 3 affected - - Pakistan Punjab - - - - 3 Johan den Dunnen
+/. - c.71G>A r.(?) p.(Trp24Ter) Unknown - pathogenic g.20763650C>T - GJB2(NM_004004.6):c.71G>A (p.W24*, p.(Trp24Ter)) - GJB2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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