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Details for GLI2:c.1811A>C, p.His604Pro

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
121742174	120984598

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

C

TRANSCRIPT

CDNA CHANGE

c.1811A>C

PROTEIN CHANGE

p.His604Pro

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
5.172e-05	0.0	8.675e-05	0.0	0.0	0.0	5.28e-05	0.0006523	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.57083	Polymorphism

DBSNP ID

1 combination linked to GLI2:c.1811A>C, p.His604Pro

1 disease linked to GLI2:c.1811A>C, p.His604Pro

46,XY disorder of sex development

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