Details for NODAL:c.1021G>T, p.Val341lle

CHROMOSOME 10
GENOMIC COORDINATES
hg19hg38
7219271570432959
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NODAL
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1021G>T
PROTEIN CHANGE p.Val341lle
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.901016Polymorphism
DBSNP ID NA
1 combination linked to NODAL:c.1021G>T, p.Val341lle OLI1643
1 disease linked to NODAL:c.1021G>T, p.Val341lle Congenital heart disease

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