Genomic variant #0001200353

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.50453551del
Reference Copied from the Exome Variant Server
DB-ID ASIC1_000017
Frequency 1/12518
Freq. EA 1/8254
Freq. AA 0/4264
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
ASIC1 NM_020039.3 ?/? c.372del r.(?) p.(Pro125Glnfs*83)