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Details for GPRC6A:c.2323dupT, p.Tyr775fs

CHROMOSOME

6

GENOMIC COORDINATES

hg19	hg38
117113762	116792599

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

AA

TRANSCRIPT

CDNA CHANGE

c.2323dupT

PROTEIN CHANGE

p.Tyr775fs

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
None	None	None	None	None	None	None	None	None

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	None	Polymorphism

DBSNP ID

3 combinations linked to GPRC6A:c.2323dupT, p.Tyr775fs

OLI1508; OLI1561; OLI1567

2 diseases linked to GPRC6A:c.2323dupT, p.Tyr775fs

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

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