Genomic variant #0000002801

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1222497_1222498del
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000067
Frequency 44/12486
Freq. EA 42/8234
Freq. AA 2/4252
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.1128_1129del r.(?) p.(Thr377Glyfs*98)