Details for NKX2-5:c.448G>A, p.Val150Ile

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
172660099173233096
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE NKX2-5
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_004387.4
CDNA CHANGE c.448G>A
PROTEIN CHANGE p.Val150Ile
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.0010.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.909943Polymorphism
DBSNP ID rs201582515
1 combination linked to NKX2-5:c.448G>A, p.Val150Ile OLI151
1 disease linked to NKX2-5:c.448G>A, p.Val150Ile Ventricular septal defect
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