Details for SCNN1A:c.944+35G>A,

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
64711826362016
VARIANT EFFECT unknown
ANNOTATION FLAG manually_corrected
GENE SCNN1A
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_001159576.2):c.1052+35G>A
CDNA CHANGE c.944+35G>A
PROTEIN CHANGE None
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00040.00.00.00.0020.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00047460.00012310.001590.00.09.301e-050.00051240.00032620.0

ESP
AAEA
0.00.0005814
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone-0.200386Polymorphism
DBSNP ID rs55773452
1 combination linked to SCNN1A:c.944+35G>A, OLI805
1 disease linked to SCNN1A:c.944+35G>A, Cystic fibrosis
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