Genomic variant #0000002813

Chromosome 1
DNA change (genomic) (Relative to hg19 / GRCh37) g.1222541C>T
Reference Copied from the Exome Variant Server
DB-ID SCNN1D_000079
Frequency 1/12974
Freq. EA 1/8578
Freq. AA 0/4396
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
SCNN1D NM_001130413.3 ?/? c.1172C>T r.(?) p.(Ala391Val)