ClinVar

NM_000755.5(CRAT):c.1705G>A (p.Val569Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.11

Genomic location:

• Chr9: 129095573 (on Assembly GRCh38)
• Chr9: 131857852 (on Assembly GRCh37)

Preferred name:

NM_000755.5(CRAT):c.1705G>A (p.Val569Met)

HGVS:

• NC_000009.12:g.129095573C>T
• NM_000755.5:c.1705G>AMANE SELECT
• NM_001257363.3:c.1642G>A
• NM_001346546.2:c.1708G>A
• NM_001346547.2:c.1633G>A
• NM_001346548.2:c.1570G>A
• NM_001346549.2:c.1585G>A
• NM_004003.4:c.1642G>A
• NP_000746.3:p.Val569Met
• NP_001244292.2:p.Val548Met
• NP_001333475.2:p.Val570Met
• NP_001333476.2:p.Val545Met
• NP_001333477.2:p.Val524Met
• NP_001333478.2:p.Val529Met
• NP_003994.3:p.Val548Met
• NC_000009.11:g.131857852C>T
• NM_000755.4:c.1705G>A

This HGVS expression did not pass validation

Protein change:

V524M

Links:

dbSNP: rs762425351

NCBI 1000 Genomes Browser:

rs762425351

Molecular consequence:

• NM_000755.5:c.1705G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001257363.3:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346546.2:c.1708G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346547.2:c.1633G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346548.2:c.1570G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001346549.2:c.1585G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004003.4:c.1642G>A - missense variant - [Sequence Ontology: SO:0001583]