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 SLCO1B1:c.757C>T, p.Arg253Ter

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
21349909	21196975

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

N.A.

CDNA CHANGE

c.757C>T

PROTEIN CHANGE

p.Arg253Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0004	0.0	0.0	0.002	0.0	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
5.972e-05	0.0	8.679e-05	0.0	0.000598	0.0	0.0	0.0	3.267e-05

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	6.414688	Disease causing

DBSNP ID

1 combination linked to SLCO1B1:c.757C>T, p.Arg253Ter

1 disease linked to SLCO1B1:c.757C>T, p.Arg253Ter

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