Genomic variant #0001637211

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.76129929C>T
Reference Copied from the Exome Variant Server
DB-ID TMC8_000047
Frequency 1/12998
Freq. EA 1/8596
Freq. AA 0/4402
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMC8 NM_152468.4 ?/? c.669-5C>T r.spl? p.?