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Details for GLI2:c.3528G>T, p.Gln1176His

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
121747018	120989442

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.3528G>T

PROTEIN CHANGE

p.Gln1176His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0008	0.0023	0.0014	0.0	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0005995	0.006309	0.0009562	0.0	0.0	0.0	0.0001178	0.0003292	6.537e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	3.258477	Polymorphism

DBSNP ID

3 combinations linked to GLI2:c.3528G>T, p.Gln1176His

OLI1524; OLI1558; OLI1746

2 diseases linked to GLI2:c.3528G>T, p.Gln1176His

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

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