ClinVar

NM_000018.4(ACADVL):c.1218G>A (p.Gln406=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7223679 (on Assembly GRCh38)
• Chr17: 7126998 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1218G>A (p.Gln406=)

HGVS:

• NC_000017.11:g.7223679G>A
• NG_007975.1:g.8846G>A
• NG_008391.2:g.1372C>T
• NG_033038.1:g.15866C>T
• NM_000018.4:c.1218G>AMANE SELECT
• NM_001033859.3:c.1152G>A
• NM_001270447.2:c.1287G>A
• NM_001270448.2:c.990G>A
• NP_000009.1:p.Gln406=
• NP_001029031.1:p.Gln384=
• NP_001257376.1:p.Gln429=
• NP_001257377.1:p.Gln330=
• NC_000017.10:g.7126998G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1597533984

NCBI 1000 Genomes Browser:

rs1597533984

Molecular consequence:

• NM_000018.4:c.1218G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1152G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1287G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.990G>A - synonymous variant - [Sequence Ontology: SO:0001819]