This site uses cookies!

We use cookies for security, analytics and session persistence reasons. Please refer to our Cookie Policy for more information.

Select Cookie Preferences (Hover for info)

Details for VLDLR:c.242A>G, p.Asn81Ser

CHROMOSOME

9

GENOMIC COORDINATES

hg19	hg38
2639898	2639898

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

A

ALTERNATE ALLELE

G

TRANSCRIPT

CDNA CHANGE

c.242A>G

PROTEIN CHANGE

p.Asn81Ser

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0024	0.0008	0.0014	0.0	0.001	0.0092

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001968	0.0004306	0.001099	0.001985	0.0001087	4.619e-05	0.001749	0.00228	0.00699

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Tolerated	Benign	2.512109	Polymorphism

DBSNP ID

1 combination linked to VLDLR:c.242A>G, p.Asn81Ser

1 disease linked to VLDLR:c.242A>G, p.Asn81Ser

Rare pervasive developmental disorder

Found any issues with the data on this page? Report this entry.