ClinVar

NM_000755.5(CRAT):c.817C>T (p.Arg273Trp)

Gene:

CRAT:carnitine O-acetyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 129100678 (on Assembly GRCh38)
• Chr9: 131862957 (on Assembly GRCh37)

Preferred name:

NM_000755.5(CRAT):c.817C>T (p.Arg273Trp)

HGVS:

• NC_000009.12:g.129100678G>A
• NM_000755.5:c.817C>TMANE SELECT
• NM_001257363.3:c.754C>T
• NM_001346546.2:c.820C>T
• NM_001346547.2:c.817C>T
• NM_001346548.2:c.754C>T
• NM_001346549.2:c.697C>T
• NM_004003.4:c.754C>T
• NP_000746.3:p.Arg273Trp
• NP_001244292.2:p.Arg252Trp
• NP_001333475.2:p.Arg274Trp
• NP_001333476.2:p.Arg273Trp
• NP_001333477.2:p.Arg252Trp
• NP_001333478.2:p.Arg233Trp
• NP_003994.3:p.Arg252Trp
• NC_000009.11:g.131862957G>A

This HGVS expression did not pass validation

Protein change:

R233W

Links:

dbSNP: rs141122671

NCBI 1000 Genomes Browser:

rs141122671

Molecular consequence:

• NM_000755.5:c.817C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257363.3:c.754C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346546.2:c.820C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346547.2:c.817C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346548.2:c.754C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346549.2:c.697C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004003.4:c.754C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1