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Details for RAB3GAP1:c.1006C>T, p.Arg336Cys

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
135887597	135130027

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1006C>T

PROTEIN CHANGE

p.Arg336Cys

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.002	0.0008	0.0	0.0	0.007	0.002

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.004304	0.000493	0.003682	0.004671	0.0002178	0.004998	0.006028	0.005067	0.002306

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.929004	Polymorphism

DBSNP ID

1 combination linked to RAB3GAP1:c.1006C>T, p.Arg336Cys

1 disease linked to RAB3GAP1:c.1006C>T, p.Arg336Cys

Hypogonadotropic hypogonadism with absent puberty phenotype

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