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Details for NOS1:c.55C>T, p.Arg19Cys

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
117768820	117331015

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.55C>T

PROTEIN CHANGE

p.Arg19Cys

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
0.0001524	6.46e-05	0.0	0.0	0.0	4.64e-05	0.0003004	0.0003304	0.0

ESP
AA	EA
0.0	0.0002418

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.609719	Polymorphism

DBSNP ID

1 combination linked to NOS1:c.55C>T, p.Arg19Cys

1 disease linked to NOS1:c.55C>T, p.Arg19Cys

Isolated anencephaly

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