ClinVar

NM_000018.4(ACADVL):c.504C>T (p.Gly168=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221564 (on Assembly GRCh38)
• Chr17: 7124883 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.504C>T (p.Gly168=)

HGVS:

• NC_000017.11:g.7221564C>T
• NG_007975.1:g.6731C>T
• NG_008391.2:g.3487G>A
• NG_008391.3:g.3486G>A
• NM_000018.4:c.504C>TMANE SELECT
• NM_001033859.3:c.438C>T
• NM_001270447.2:c.573C>T
• NM_001270448.2:c.276C>T
• NP_000009.1:p.Gly168=
• NP_001029031.1:p.Gly146=
• NP_001257376.1:p.Gly191=
• NP_001257377.1:p.Gly92=
• NC_000017.10:g.7124883C>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000018.4:c.504C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.438C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.573C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.276C>T - synonymous variant - [Sequence Ontology: SO:0001819]