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Details for RAB3GAP1:c.1233_1235del, p.Leu412del

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
135888290	135130720

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

CTCCT

ALTERNATE ALLELE

CT

TRANSCRIPT

N.A.

CDNA CHANGE

c.1233_1235del

PROTEIN CHANGE

p.Leu412del

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
None	None	None	Disease causing

DBSNP ID

1 combination linked to RAB3GAP1:c.1233_1235del, p.Leu412del

1 disease linked to RAB3GAP1:c.1233_1235del, p.Leu412del

Hypogonadotropic hypogonadism with absent puberty phenotype

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