Genomic variant #0001637153

Chromosome 17
DNA change (genomic) (Relative to hg19 / GRCh37) g.76127787C>G
Reference Copied from the Exome Variant Server
DB-ID TMC6_000235
Frequency 2/12764
Freq. EA 2/8466
Freq. AA 0/4298
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
TMC6 NM_001127198.1 ?/? c.-3169G>C r.(?) p.(Pro40Ala)
TMC8 NM_152468.4 ?/? c.118C>G r.(?) p.(Pro40Ala)