ClinVar

NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224388 (on Assembly GRCh38)
• Chr17: 7127707 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)

Other names:

p.E534K:GAG>AAG; NM_000018.3(ACADVL):c.1600G>A(p.Glu534Lys); NM_001033859.2(ACADVL):c.1534G>A(p.Glu512Lys); NM_001270447.1(ACADVL):c.1669G>A(p.Glu557Lys); NM_001270448.1(ACADVL):c.1372G>A(p.Glu458Lys)

HGVS:

• NC_000017.11:g.7224388G>A
• NG_007975.1:g.9555G>A
• NG_008391.2:g.663C>T
• NG_033038.1:g.15157C>T
• NM_000018.4:c.1600G>AMANE SELECT
• NM_001033859.3:c.1534G>A
• NM_001270447.2:c.1669G>A
• NM_001270448.2:c.1372G>A
• NP_000009.1:p.Glu534Lys
• NP_000009.1:p.Glu534Lys
• NP_001029031.1:p.Glu512Lys
• NP_001257376.1:p.Glu557Lys
• NP_001257377.1:p.Glu458Lys
• NP_001257377.1:p.Glu458Lys
• NC_000017.10:g.7127707G>A
• NM_000018.2:c.1600G>A
• NM_000018.3:c.1600G>A
• NM_001270448.1:c.1372G>A
• P49748:p.Glu534Lys

This HGVS expression did not pass validation

Protein change:

E458K

Links:

UniProtKB: P49748#VAR_010105; dbSNP: rs2230180

NCBI 1000 Genomes Browser:

rs2230180

Molecular consequence:

• NM_000018.4:c.1600G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1534G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1669G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.1372G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2