ClinVar

NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7222797 (on Assembly GRCh38)
• Chr17: 7126116 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1009C>T (p.Leu337Phe)

HGVS:

• NC_000017.11:g.7222797C>T
• NG_007975.1:g.7964C>T
• NG_008391.2:g.2254G>A
• NM_000018.4:c.1009C>TMANE SELECT
• NM_001033859.3:c.943C>T
• NM_001270447.2:c.1078C>T
• NM_001270448.2:c.781C>T
• NP_000009.1:p.Leu337Phe
• NP_001029031.1:p.Leu315Phe
• NP_001257376.1:p.Leu360Phe
• NP_001257377.1:p.Leu261Phe
• NC_000017.10:g.7126116C>T
• NM_000018.2:c.1009C>T
• NM_000018.3:c.1009C>T

This HGVS expression did not pass validation

Protein change:

L261F

Links:

dbSNP: rs1567565656

NCBI 1000 Genomes Browser:

rs1567565656

Molecular consequence:

• NM_000018.4:c.1009C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1078C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.781C>T - missense variant - [Sequence Ontology: SO:0001583]