Genomic variant #0001637244

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.76130919C>T
Reference Copied from the Exome Variant Server
DB-ID TMC8_000080
Frequency 24/13006
Freq. EA 1/8600
Freq. AA 23/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMC8 NM_152468.4 ?/? c.988-32C>T r.(=) p.(=)