Genomic variant #0000002770

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1221711del
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000036
Frequency 2/12040
Freq. EA 2/7976
Freq. AA 0/4064
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.911+53del r.(=) p.(=)