ClinVar

NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p32.3

Genomic location:

• Chr1: 53211019 (on Assembly GRCh38)
• Chr1: 53676691 (on Assembly GRCh37)

Preferred name:

NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)

HGVS:

• NC_000001.11:g.53211019C>T
• NG_008035.1:g.19591C>T
• NM_000098.3:c.1345C>TMANE SELECT
• NM_001330589.2:c.1345C>T
• NP_000089.1:p.Gln449Ter
• NP_001317518.1:p.Gln449Ter
• NC_000001.10:g.53676691C>T
• NM_000098.2:c.1345C>T

This HGVS expression did not pass validation

Protein change:

Q449*

Links:

dbSNP: rs1057517492

NCBI 1000 Genomes Browser:

rs1057517492

Molecular consequence:

• NM_000098.3:c.1345C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001330589.2:c.1345C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1