Genomic variant #0001972874

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.70444261T>G
Reference Copied from the Exome Variant Server
DB-ID GJB1_000013
Frequency 32/10559
Freq. EA 0/6724
Freq. AA 32/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GJB1 NM_000166.5 ?/? c.704T>G r.(?) p.(Phe235Cys)