ClinVar

NM_000018.4(ACADVL):c.1074G>A (p.Lys358=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7222862 (on Assembly GRCh38)
• Chr17: 7126181 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1074G>A (p.Lys358=)

HGVS:

• NC_000017.11:g.7222862G>A
• NG_007975.1:g.8029G>A
• NG_008391.2:g.2189C>T
• NG_008391.3:g.2188C>T
• NM_000018.4:c.1074G>AMANE SELECT
• NM_001033859.3:c.1008G>A
• NM_001270447.2:c.1143G>A
• NM_001270448.2:c.846G>A
• NP_000009.1:p.Lys358=
• NP_001029031.1:p.Lys336=
• NP_001257376.1:p.Lys381=
• NP_001257377.1:p.Lys282=
• NC_000017.10:g.7126181G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000018.4:c.1074G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1008G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1143G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.846G>A - synonymous variant - [Sequence Ontology: SO:0001819]