Genomic variant #0000002735

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1219363_1219364del
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000001
Frequency 6/11714
Freq. EA 0/7780
Freq. AA 6/3934
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.357_358del r.(?) p.(Gly121Leufs*151)