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Details for NOS3:c.2753T>G, p.Phe918Cys

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
150707752	151010664

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.2753T>G

PROTEIN CHANGE

p.Phe918Cys

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
1.692e-05	0.0	0.0	0.0	0.0	0.0	3.768e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.370773	Polymorphism

DBSNP ID

1 combination linked to NOS3:c.2753T>G, p.Phe918Cys

1 disease linked to NOS3:c.2753T>G, p.Phe918Cys

Isolated anencephaly

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