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Details for GLI3:c.1393G>C, p.Gly465Arg

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
42063171	42023572

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.1393G>C

PROTEIN CHANGE

p.Gly465Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.001	0.0	0.0043	0.0	0.002	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.003929	0.0004306	0.002746	0.007639	5.437e-05	0.002448	0.006056	0.005051	0.001143

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.869454	Polymorphism

DBSNP ID

1 combination linked to GLI3:c.1393G>C, p.Gly465Arg

1 disease linked to GLI3:c.1393G>C, p.Gly465Arg

46,XY disorder of sex development

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