Genomic variant #0001972876

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.70444443C>A
Reference Copied from the Exome Variant Server
DB-ID GJB1_000015
Frequency 150/8758
Freq. EA 3/5718
Freq. AA 147/3040
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GJB1 NM_000166.5 ?/? c.*34C>A r.(=) p.(=)