ClinVar

NM_000018.4(ACADVL):c.1839G>T (p.Arg613=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7224968 (on Assembly GRCh38)
• Chr17: 7128287 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1839G>T (p.Arg613=)

HGVS:

• NC_000017.11:g.7224968G>T
• NG_007975.1:g.10135G>T
• NG_008391.2:g.83C>A
• NG_008391.3:g.82C>A
• NG_033038.1:g.14577C>A
• NG_135375.1:g.113G>T
• NM_000018.4:c.1839G>TMANE SELECT
• NM_001033859.3:c.1773G>T
• NM_001270447.2:c.1908G>T
• NM_001270448.2:c.1611G>T
• NP_000009.1:p.Arg613=
• NP_001029031.1:p.Arg591=
• NP_001257376.1:p.Arg636=
• NP_001257377.1:p.Arg537=
• NC_000017.10:g.7128287G>T

This HGVS expression did not pass validation

Molecular consequence:

• NM_000018.4:c.1839G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001033859.3:c.1773G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270447.2:c.1908G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001270448.2:c.1611G>T - synonymous variant - [Sequence Ontology: SO:0001819]