Genomic variant #0001972866

Chromosome X
DNA change (genomic) (Relative to hg19 / GRCh37) g.70443792C>T
Reference Copied from the Exome Variant Server
DB-ID GJB1_000005
Frequency 20/10561
Freq. EA 19/6726
Freq. AA 1/3835
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
GJB1 NM_000166.5 ?/? c.235C>T r.(=) p.(=)