Details for ABCC8:c.3976G>A, p.Glu1326Lys

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
1741875217397205
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ABCC8
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_000352.4
CDNA CHANGE c.3976G>A
PROTEIN CHANGE p.Glu1326Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00140.00.00.00690.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00015930.02.892e-050.00.0020660.08.799e-060.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousBenign3.297023Disease causing
DBSNP ID rs200563930
1 combination linked to ABCC8:c.3976G>A, p.Glu1326Lys OLI004
1 disease linked to ABCC8:c.3976G>A, p.Glu1326Lys Idiopathic pulmonary arterial hypertension
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