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Details for GLI2:c.1289C>G, p.Ala430Gly

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
121732606	120975030

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1289C>G

PROTEIN CHANGE

p.Ala430Gly

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
Deleterious	Benign	3.755959	Polymorphism

DBSNP ID

1 combination linked to GLI2:c.1289C>G, p.Ala430Gly

1 disease linked to GLI2:c.1289C>G, p.Ala430Gly

46,XY disorder of sex development

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