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Details for GLI3:c.1285C>G, p.Pro429Ala

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
42064934	42025335

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.1285C>G

PROTEIN CHANGE

p.Pro429Ala

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.510275	Polymorphism

DBSNP ID

1 combination linked to GLI3:c.1285C>G, p.Pro429Ala

1 disease linked to GLI3:c.1285C>G, p.Pro429Ala

Hypogonadotropic hypogonadism with absent puberty phenotype

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