ClinVar

NM_004035.7(ACOX1):c.1344G>A (p.Val448=)

Gene:

ACOX1:acyl-CoA oxidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 75949852 (on Assembly GRCh38)
• Chr17: 73945933 (on Assembly GRCh37)

Preferred name:

NM_004035.7(ACOX1):c.1344G>A (p.Val448=)

HGVS:

• NC_000017.11:g.75949852C>T
• NG_008190.1:g.34512G>A
• NM_001185039.2:c.1230G>A
• NM_004035.7:c.1344G>AMANE SELECT
• NM_007292.6:c.1344G>A
• NP_001171968.1:p.Val410=
• NP_004026.2:p.Val448=
• NP_009223.2:p.Val448=
• NC_000017.10:g.73945933C>T
• NM_004035.6:c.1344G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs753969664

NCBI 1000 Genomes Browser:

rs753969664

Molecular consequence:

• NM_001185039.2:c.1230G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004035.7:c.1344G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_007292.6:c.1344G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1