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Details for NOS1:c.1007G>A, p.Arg336His

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
117703242	117265437

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_corrected

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1007G>A

PROTEIN CHANGE

p.Arg336His

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
1.336e-05	7.173e-05	3.387e-05	0.0	0.0	0.0	0.0	0.0001882	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.823957	Disease causing

DBSNP ID

1 combination linked to NOS1:c.1007G>A, p.Arg336His

1 disease linked to NOS1:c.1007G>A, p.Arg336His

Normosmic congenital hypogonadotropic hypogonadism

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