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Details for ANOS1:c.1759G>T, p.Val587Leu

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
8503715	8535674

VARIANT EFFECT

missense

ANNOTATION FLAG

automatically_attributed

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1759G>T

PROTEIN CHANGE

p.Val587Leu

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0011	0.0	0.0057	0.0	0.0013	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002237	0.0006083	0.0008024	0.008549	0.0	0.000125	0.003718	0.00221	0.0

ESP
AA	EA
0.0005215	0.003867

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	3.055541	Polymorphism

DBSNP ID

2 combinations linked to ANOS1:c.1759G>T, p.Val587Leu

OLI1391; OLI391

2 diseases linked to ANOS1:c.1759G>T, p.Val587Leu

Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype

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