Details for SCNN1A:c.1069G>A, p.Ala357Thr

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
64645816355415
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE SCNN1A
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001159575.1
CDNA CHANGE c.1069G>A
PROTEIN CHANGE p.Ala357Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.19230.50530.06630.13790.05070.0603

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.079380.45790.030680.045910.14010.099850.038840.055430.04958

ESP
AAEA
0.44830.03698
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.483694Polymorphism
DBSNP ID rs11542844
1 combination linked to SCNN1A:c.1069G>A, p.Ala357Thr OLI800
1 disease linked to SCNN1A:c.1069G>A, p.Ala357Thr Cystic fibrosis
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