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

CHROMOSOME 12
GENOMIC COORDINATES
hg19hg38
2137528921222355
VARIANT EFFECT None
ANNOTATION FLAG None
GENE SLCO1B1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_006446.4
CDNA CHANGE c.1738C>T
PROTEIN CHANGE p.Arg580Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00280.00.00290.00890.0030.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.0016360.00083180.0031480.0020510.0042420.00087560.001350.0052270.0005842

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone8.586127Disease causing
DBSNP ID NA
1 combination linked to SLCO1B1:c.1738C>T, p.Arg580Ter OLI1479
1 disease linked to SLCO1B1:c.1738C>T, p.Arg580Ter Rotor syndrome

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