Variant #0000001799 (NC_000023.10:g.70444065G>A, GJB1(NM_001097642.2):c.508G>A)

Individual ID 00001799
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.70444065G>A
Reference Brozková D1, Mazanec R, Haberlová J, Sakmaryová I, Subrt I, Seeman P.(2010)
DB-ID GJB1_000005
Frequency -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
GJB1 NM_001097642.2 ./. 2 c.508G>A r.(?) p.(Val170Ile) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001799 ? ? GJB1 1 Y Yang