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Details for GLI3:c.3286G>A, p.Val1096Met

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
42005385	41965787

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.3286G>A

PROTEIN CHANGE

p.Val1096Met

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
2.792e-05	0.0	0.0	0.0	0.0001088	0.0	4.417e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.447382	Polymorphism

DBSNP ID

1 combination linked to GLI3:c.3286G>A, p.Val1096Met

1 disease linked to GLI3:c.3286G>A, p.Val1096Met

Normosmic congenital hypogonadotropic hypogonadism

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