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Details for GPC3:c.1354G>A, p.Val452Met

CHROMOSOME

X

GENOMIC COORDINATES

hg19	hg38
132826404	133692376

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1354G>A

PROTEIN CHANGE

p.Val452Met

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0045	0.002	0.0095	0.0026	0.0052	0.0056

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.006249	0.001292	0.0205	0.006814	0.001516	0.0001249	0.004116	0.008168	0.00624

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Benign	3.042729	Polymorphism

DBSNP ID

1 combination linked to GPC3:c.1354G>A, p.Val452Met

1 disease linked to GPC3:c.1354G>A, p.Val452Met

Syndrome with 46,XY disorder of sex development

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