ClinVar

NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr)

Gene:

SLCO1B1:solute carrier organic anion transporter family member 1B1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21176879 (on Assembly GRCh38)
• Chr12: 21329813 (on Assembly GRCh37)

Preferred name:

NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr)

HGVS:

• NC_000012.12:g.21176879C>A
• NG_011745.1:g.50686C>A
• NM_006446.5:c.463C>AMANE SELECT
• NP_006437.3:p.Pro155Thr
• LRG_1022t1:c.463C>A
• LRG_1022:g.50686C>A
• NC_000012.11:g.21329813C>A
• NM_006446.4:c.463C>A
• Q9Y6L6:p.Pro155Thr

This HGVS expression did not pass validation

Protein change:

P155T

Links:

UniProtKB: Q9Y6L6#VAR_015074; dbSNP: rs11045819

NCBI 1000 Genomes Browser:

rs11045819

Molecular consequence:

• NM_006446.5:c.463C>A - missense variant - [Sequence Ontology: SO:0001583]