Details for NKX2-5:c.355G>T, p.Ala119Ser

CHROMOSOME 5
GENOMIC COORDINATES
hg19hg38
172660192173233189
VARIANT EFFECT missense
ANNOTATION FLAG manually_attributed
GENE NKX2-5
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_004387
CDNA CHANGE c.355G>T
PROTEIN CHANGE p.Ala119Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00060.00.00.00.0010.002

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00090440.00.00020570.00.00.00079730.0011010.00034380.002415

ESP
AAEA
0.00.0008168
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.490235Polymorphism
DBSNP ID rs137852684
1 combination linked to NKX2-5:c.355G>T, p.Ala119Ser OLI606
1 disease linked to NKX2-5:c.355G>T, p.Ala119Ser Left ventricular noncompaction
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