Details for ABCC9:c.3594G>A, p.Met1198Ile

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
2198196721829033
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE ABCC9
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_005691.3
CDNA CHANGE c.3594G>A
PROTEIN CHANGE p.Met1198Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.555e-050.00.00014450.00.04.619e-057.911e-050.00016299.799e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.537909Disease causing
DBSNP ID rs199900459
1 combination linked to ABCC9:c.3594G>A, p.Met1198Ile OLI232
2 diseases linked to ABCC9:c.3594G>A, p.Met1198Ile Left ventricular noncompaction; Rubinstein-Taybi syndrome
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