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Details for SLCO1B1:c.1738C>T, p.Arg580Ter

CHROMOSOME

12

GENOMIC COORDINATES

hg19	hg38
21375289	21222355

VARIANT EFFECT

None

ANNOTATION FLAG

None

GENE

REFERENCE ALLELE

C

ALTERNATE ALLELE

T

TRANSCRIPT

CDNA CHANGE

c.1738C>T

PROTEIN CHANGE

p.Arg580Ter

ALLELE FREQUENCY

1KGP
Global	AFR	AMR	EAS	EUR	SAS
0.0028	0.0	0.0029	0.0089	0.003	0.0

Gnomad
Global	AFR	AMR	ASJ	EAS	FIN	NFE	OTH	SAS
0.001636	0.0008318	0.003148	0.002051	0.004242	0.0008756	0.00135	0.005227	0.0005842

ESP
AA	EA
None	None

PREDICTORS

sift	pp2 hvar	cadd	mutationtaster
None	None	8.586127	Disease causing

DBSNP ID

1 combination linked to SLCO1B1:c.1738C>T, p.Arg580Ter

1 disease linked to SLCO1B1:c.1738C>T, p.Arg580Ter

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