ClinVar

NM_003501.3(ACOX3):c.1933G>A (p.Ala645Thr)

Gene:

ACOX3:acyl-CoA oxidase 3, pristanoyl [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4p16.1

Genomic location:

• Chr4: 8370958 (on Assembly GRCh38)
• Chr4: 8372685 (on Assembly GRCh37)

Preferred name:

NM_003501.3(ACOX3):c.1933G>A (p.Ala645Thr)

HGVS:

• NC_000004.12:g.8370958C>T
• NM_001101667.2:c.1865G>A
• NM_001375783.1:c.1933G>A
• NM_001375784.1:c.1861G>A
• NM_001375785.1:c.1896+2603G>A
• NM_001375786.1:c.1896+2603G>A
• NM_001375787.1:c.1933G>A
• NM_001375788.1:c.1865G>A
• NM_001375789.1:c.1648G>A
• NM_001375790.1:c.1654-3878G>A
• NM_003501.3:c.1933G>AMANE SELECT
• NP_001095137.1:p.Arg622His
• NP_001362712.1:p.Ala645Thr
• NP_001362713.1:p.Ala621Thr
• NP_001362716.1:p.Ala645Thr
• NP_001362717.1:p.Arg622His
• NP_001362718.1:p.Ala550Thr
• NP_003492.2:p.Ala645Thr
• NC_000004.11:g.8372685C>T
• NM_003501.2:c.1933G>A

This HGVS expression did not pass validation

Protein change:

A550T

Molecular consequence:

• NM_001375785.1:c.1896+2603G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001375786.1:c.1896+2603G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001375790.1:c.1654-3878G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001101667.2:c.1865G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375783.1:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375784.1:c.1861G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375787.1:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375788.1:c.1865G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001375789.1:c.1648G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003501.3:c.1933G>A - missense variant - [Sequence Ontology: SO:0001583]