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 ABCG5:c.1166G>A, p.Arg389His

CHROMOSOME

2

GENOMIC COORDINATES

hg19	hg38
44051210	43824071

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.1166G>A

PROTEIN CHANGE

p.Arg389His

ALLELE FREQUENCY

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

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.0001511	0.0	0.0	0.0	0.002012	0.0	8.791e-06	0.0	0.0

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
Deleterious	Damaging	4.153543	Disease causing

DBSNP ID

1 combination linked to ABCG5:c.1166G>A, p.Arg389His

1 disease linked to ABCG5:c.1166G>A, p.Arg389His

NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia

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