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Details for VLDLR:c.902G>A, p.Arg301Gln

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
2643709	2643709

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

N.A.

CDNA CHANGE

c.902G>A

PROTEIN CHANGE

p.Arg301Gln

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.0	0.001	0.001

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.002208	0.0003076	0.0005204	0.002878	0.0	0.004712	0.002647	0.003258	0.002613

ESP
AA	EA
0.000227	0.001279

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Damaging	2.830672	Disease causing

DBSNP ID

1 combination linked to VLDLR:c.902G>A, p.Arg301Gln

1 disease linked to VLDLR:c.902G>A, p.Arg301Gln

Primary ovarian failure

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