Details for SCNN1B:c.1688G>A, p.Arg563Gln

CHROMOSOME 16
GENOMIC COORDINATES
hg19hg38
2339188723380566
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE SCNN1B
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000336.2
CDNA CHANGE c.1688G>A
PROTEIN CHANGE p.Arg563Gln
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00014720.00018470.00052040.00.00.00.00010560.00016319.799e-05

ESP
AAEA
0.00045520.0002326
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.813076Disease causing
DBSNP ID rs149868979
1 combination linked to SCNN1B:c.1688G>A, p.Arg563Gln OLI804
1 disease linked to SCNN1B:c.1688G>A, p.Arg563Gln Cystic fibrosis
Found any issues with the data on this page? Report this entry.