Variant #0000647679 (NC_000001.10:g.35227466A>C, NM_153212.2:c.611A>C (GJB4))

Individual ID 00289822
Chromosome 1
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.35227466A>C
DNA change (hg38) g.34761865A>C
Published as -
ISCN -
DB-ID GJB4_000020 See all 2 reported entries
Variant remarks 115 heterozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs3738346
Origin Germline
Segregation -
Frequency 115/2795 individuals
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.03847 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-03-11 19:46:11 +01:00 (CET)
Date last edited 2025-06-14 04:40:29 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GJB4 NM_153212.2 -/. - c.611A>C r.(?) p.(Glu204Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000290990 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq


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