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Details for VLDLR:c.1901G>A, p.Arg634His

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
2648286	2648286

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

G

ALTERNATE ALLELE

A

TRANSCRIPT

CDNA CHANGE

c.1901G>A

PROTEIN CHANGE

p.Arg634His

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0002	0.0	0.0	0.0	0.001	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0007686	0.0001231	0.0002313	0.0	5.437e-05	4.619e-05	0.001543	0.0008157	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.473805	Disease causing

DBSNP ID

1 combination linked to VLDLR:c.1901G>A, p.Arg634His

1 disease linked to VLDLR:c.1901G>A, p.Arg634His

Rare pervasive developmental disorder

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