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Details for RAB3GAP2:c.585A>G, p.Ile195Met

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
220383757	220210415

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.585A>G

PROTEIN CHANGE

p.Ile195Met

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
Tolerated	Benign	1.865384	Polymorphism

DBSNP ID

1 combination linked to RAB3GAP2:c.585A>G, p.Ile195Met

1 disease linked to RAB3GAP2:c.585A>G, p.Ile195Met

Hypogonadotropic hypogonadism with absent puberty phenotype

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