Variant #0000001343 (NC_000013.11:g.20189473C>T, NM_004004.6:c.109G>A (GJB2))

Individual ID 00000273
Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.20189473C>T
Published as V37I
Reference B H I Ruszymah et al. (2005), dbSNP, (OMIM 0023), ClinVar
DB-ID GJB2_000001 See all 6 reported entries
dbSNP ID rs72474224
Frequency 4/6
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
Date created 2020-12-17 16:19:10 +08:00 (CST)
Date last edited 2021-08-30 10:05:09 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
GJB2 NM_004004.6 +/. - c.109G>A - r.(?) p.(Val37Ile) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000288 DNA PCR GJB2 3 Nuur Athirah Binti Mohd Daud