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Details for PRIM1:c.911G>T, p.Arg304Leu

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
57135290	56741506

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.911G>T

PROTEIN CHANGE

p.Arg304Leu

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
Deleterious	Possibly Damaging	4.408955	Disease causing

DBSNP ID

1 combination linked to PRIM1:c.911G>T, p.Arg304Leu

1 disease linked to PRIM1:c.911G>T, p.Arg304Leu

Primary ovarian failure

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