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Details for RAB3GAP2:c.590G>A, p.Arg197Gln

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
220383752	220210410

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.590G>A

PROTEIN CHANGE

p.Arg197Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
1.99e-05	0.0	0.0	0.0	0.0	0.0	3.521e-05	0.0	3.266e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Possibly Damaging	4.212203	Polymorphism

DBSNP ID

1 combination linked to RAB3GAP2:c.590G>A, p.Arg197Gln

1 disease linked to RAB3GAP2:c.590G>A, p.Arg197Gln

Hypogonadotropic hypogonadism with Fertile Eunuch phenotype

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