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Details for GLI3:c.3935T>G, p.Met1312Arg

CHROMOSOME

7

GENOMIC COORDINATES

hg19	hg38
42004736	41965138

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.3935T>G

PROTEIN CHANGE

p.Met1312Arg

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0029	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0003313	6.176e-05	0.001128	0.0	0.0	4.621e-05	0.0003365	0.0006527	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	1.942211	Polymorphism

DBSNP ID

3 combinations linked to GLI3:c.3935T>G, p.Met1312Arg

OLI1530; OLI1571; OLI1574

2 diseases linked to GLI3:c.3935T>G, p.Met1312Arg

46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development

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