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Details for NOS1:c.2153C>T, p.Thr718Met

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
117701763	117263958

VARIANT EFFECT

missense

ANNOTATION FLAG

manually_attributed

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2153C>T

PROTEIN CHANGE

p.Thr718Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0	0.0	0.004	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0002889	0.000323	2.904e-05	0.0	0.003505	0.0	0.0	0.0001655	6.541e-05

ESP
AA	EA
0.00049	0.0

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	3.695633	Disease causing

DBSNP ID

1 combination linked to NOS1:c.2153C>T, p.Thr718Met

1 disease linked to NOS1:c.2153C>T, p.Thr718Met

Normosmic congenital hypogonadotropic hypogonadism

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