ClinVar

NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224340 (on Assembly GRCh38)
• Chr17: 7127659 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1552G>A (p.Gly518Ser)

HGVS:

• NC_000017.11:g.7224340G>A
• NG_007975.1:g.9507G>A
• NG_008391.2:g.711C>T
• NG_033038.1:g.15205C>T
• NM_000018.4:c.1552G>AMANE SELECT
• NM_001033859.3:c.1486G>A
• NM_001270447.2:c.1621G>A
• NM_001270448.2:c.1324G>A
• NP_000009.1:p.Gly518Ser
• NP_001029031.1:p.Gly496Ser
• NP_001257376.1:p.Gly541Ser
• NP_001257377.1:p.Gly442Ser
• NP_001257377.1:p.Gly442Ser
• NC_000017.10:g.7127659G>A
• NM_000018.2:c.1552G>A
• NM_001270448.1:c.1324G>A

This HGVS expression did not pass validation

Protein change:

G442S

Links:

dbSNP: rs374507980

NCBI 1000 Genomes Browser:

rs374507980

Molecular consequence:

• NM_000018.4:c.1552G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1486G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1621G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.1324G>A - missense variant - [Sequence Ontology: SO:0001583]