ClinVar

NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224882 (on Assembly GRCh38)
• Chr17: 7128201 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1825G>A (p.Glu609Lys)

HGVS:

• NC_000017.11:g.7224882G>A
• NG_007975.1:g.10049G>A
• NG_008391.2:g.169C>T
• NG_033038.1:g.14663C>T
• NM_000018.4:c.1825G>AMANE SELECT
• NM_001033859.3:c.1759G>A
• NM_001270447.2:c.1894G>A
• NM_001270448.2:c.1597G>A
• NP_000009.1:p.Glu609Lys
• NP_000009.1:p.Glu609Lys
• NP_001029031.1:p.Glu587Lys
• NP_001257376.1:p.Glu632Lys
• NP_001257377.1:p.Glu533Lys
• NC_000017.10:g.7128201G>A
• NM_000018.3:c.1825G>A

This HGVS expression did not pass validation

Protein change:

E533K

Links:

dbSNP: rs398123086

NCBI 1000 Genomes Browser:

rs398123086

Molecular consequence:

• NM_000018.4:c.1825G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1759G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1894G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.1597G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2