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Details for RAB3GAP1:c.2938G>A, p.Ala980Thr

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
135926322	135168752

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.2938G>A

PROTEIN CHANGE

p.Ala980Thr

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
3.182e-05	6.152e-05	0.0001445	0.0	0.0	0.0	1.759e-05	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	4.179815	Disease causing

DBSNP ID

1 combination linked to RAB3GAP1:c.2938G>A, p.Ala980Thr

1 disease linked to RAB3GAP1:c.2938G>A, p.Ala980Thr

Hypogonadotropic hypogonadism with absent puberty phenotype

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