ClinVar

NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)

Gene:

CPT2:carnitine palmitoyltransferase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 53202427 (on Assembly GRCh38)
• Chr1: 53668099 (on Assembly GRCh37)

Preferred name:

NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)

Other names:

p.S113L:TCG>TTG

HGVS:

• NC_000001.11:g.53202427C>T
• NG_008035.1:g.10999C>T
• NM_000098.3:c.338C>TMANE SELECT
• NM_001330589.2:c.338C>T
• NP_000089.1:p.Ser113Leu
• NP_000089.1:p.Ser113Leu
• NP_001317518.1:p.Ser113Leu
• NC_000001.10:g.53668099C>T
• NM_000098.2:c.338C>T
• P23786:p.Ser113Leu
• c.338C>T (p.Ser113Leu)

This HGVS expression did not pass validation

Protein change:

S113L; SER113LEU

Links:

UniProtKB: P23786#VAR_001392; OMIM: 600650.0002; dbSNP: rs74315294

NCBI 1000 Genomes Browser:

rs74315294

Molecular consequence:

• NM_000098.3:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001330589.2:c.338C>T - missense variant - [Sequence Ontology: SO:0001583]