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Details for NAT1:c.938A>T, p.Asp313Val

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
18080308	18222799

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.938A>T

PROTEIN CHANGE

p.Asp313Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0012	0.0	0.0014	0.0	0.005	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002414	0.0004944	0.0009948	0.0006999	0.0	0.007226	0.003392	0.001486	0.0001652

ESP
AA	EA
0.001135	0.003023

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.016133	Polymorphism

DBSNP ID

2 combinations linked to NAT1:c.938A>T, p.Asp313Val

1 disease linked to NAT1:c.938A>T, p.Asp313Val

Isolated anencephaly

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