Variant #0000002260 (NC_000013.11:g.20189473C>T, NM_004004.6:c.109G>A (GJB2))

Individual ID 00000482
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 -
Reference Z Siti Aishah et al. (2008), dbSNP, (OMIM 0023), ClinVar
DB-ID GJB2_000001 See all 6 reported entries
dbSNP ID rs72474224
Frequency 4/33
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 2021-03-07 11:04:43 +08:00 (CST)
Date last edited 2021-08-01 13:14:47 +08:00 (CST)
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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) missense Pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000528 DNA DHPLC;PCR;SEQ GJB2 3 Nuur Athirah Binti Mohd Daud