ClinVar

NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)

Gene:

ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221598 (on Assembly GRCh38)
• Chr17: 7124917 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)

Other names:

p.A180T:GCC>ACC; NM_000018.4(ACADVL):c.538G>A

HGVS:

• NC_000017.11:g.7221598G>A
• NG_007975.1:g.6765G>A
• NG_008391.2:g.3453C>T
• NM_000018.4:c.538G>AMANE SELECT
• NM_001033859.3:c.472G>A
• NM_001270447.2:c.607G>A
• NM_001270448.2:c.310G>A
• NP_000009.1:p.Ala180Thr
• NP_000009.1:p.Ala180Thr
• NP_001029031.1:p.Ala158Thr
• NP_001257376.1:p.Ala203Thr
• NP_001257377.1:p.Ala104Thr
• NP_001257377.1:p.Ala104Thr
• NC_000017.10:g.7124917G>A
• NM_000018.2:c.538G>A
• NM_000018.3:c.538G>A
• NM_001033859.1:c.472G>A
• NM_001270448.1:c.310G>A

This HGVS expression did not pass validation

Protein change:

A104T

Links:

dbSNP: rs727503791

NCBI 1000 Genomes Browser:

rs727503791

Molecular consequence:

• NM_000018.4:c.538G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.472G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.607G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.310G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

3