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Details for RAB3GAP2:c.4060A>G, p.Ile1354Val

CHROMOSOME

1

GENOMIC COORDINATES

hg19	hg38
220324715	220151373

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

T

ALTERNATE ALLELE

C

TRANSCRIPT

N.A.

CDNA CHANGE

c.4060A>G

PROTEIN CHANGE

p.Ile1354Val

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.003	0.0083	0.0043	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007869	0.00486	0.00188	0.0004964	0.0	0.0	0.0003591	0.001145	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	1.410386	Polymorphism

DBSNP ID

1 combination linked to RAB3GAP2:c.4060A>G, p.Ile1354Val

1 disease linked to RAB3GAP2:c.4060A>G, p.Ile1354Val

Hypogonadotropic hypogonadism with absent puberty phenotype

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