ClinVar

NM_170699.3(GPBAR1):c.736C>T (p.Leu246Phe)

Gene:

GPBAR1:G protein-coupled bile acid receptor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 218263460 (on Assembly GRCh38)
• Chr2: 219128183 (on Assembly GRCh37)

Preferred name:

NM_170699.3(GPBAR1):c.736C>T (p.Leu246Phe)

HGVS:

• NC_000002.12:g.218263460C>T
• NG_033036.1:g.11711G>A
• NM_001077191.2:c.736C>T
• NM_001077194.2:c.736C>T
• NM_001321950.2:c.736C>T
• NM_170699.3:c.736C>TMANE SELECT
• NP_001070659.1:p.Leu246Phe
• NP_001070662.1:p.Leu246Phe
• NP_001308879.1:p.Leu246Phe
• NP_733800.1:p.Leu246Phe
• NC_000002.11:g.219128183C>T
• NM_001077191.1:c.736C>T

This HGVS expression did not pass validation

Protein change:

L246F

Molecular consequence:

• NM_001077191.2:c.736C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001077194.2:c.736C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321950.2:c.736C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_170699.3:c.736C>T - missense variant - [Sequence Ontology: SO:0001583]