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Details for NAT1:c.136T>C, p.Trp46Arg

CHROMOSOME

8

GENOMIC COORDINATES

hg19	hg38
18076954	18219445

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.136T>C

PROTEIN CHANGE

p.Trp46Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
None	None	None	None	None	None

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
2.61e-05	0.0	0.0	0.0	0.0	0.0	6.727e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	0.072089	Polymorphism

DBSNP ID

1 combination linked to NAT1:c.136T>C, p.Trp46Arg

1 disease linked to NAT1:c.136T>C, p.Trp46Arg

Isolated anencephaly

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