ClinVar

NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.1

Genomic location:

• Chr17: 75957539 (on Assembly GRCh38)
• Chr17: 73953620 (on Assembly GRCh37)

Preferred name:

NM_004035.7(ACOX1):c.458C>T (p.Thr153Ile)

HGVS:

• NC_000017.11:g.75957539G>A
• NG_008190.1:g.26825C>T
• NM_001185039.2:c.344C>T
• NM_004035.7:c.458C>TMANE SELECT
• NM_007292.6:c.458C>T
• NP_001171968.1:p.Thr115Ile
• NP_004026.2:p.Thr153Ile
• NP_009223.2:p.Thr153Ile
• NC_000017.10:g.73953620G>A
• NM_004035.6:c.458C>T
• Q15067:p.Thr153Ile

This HGVS expression did not pass validation

Protein change:

T115I

Links:

UniProtKB: Q15067#VAR_030619; dbSNP: rs17855420

NCBI 1000 Genomes Browser:

rs17855420

Molecular consequence:

• NM_001185039.2:c.344C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004035.7:c.458C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007292.6:c.458C>T - missense variant - [Sequence Ontology: SO:0001583]