ClinVar

NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7221555 (on Assembly GRCh38)
• Chr17: 7124874 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.495G>T (p.Glu165Asp)

HGVS:

• NC_000017.11:g.7221555G>T
• NG_007975.1:g.6722G>T
• NG_008391.2:g.3496C>A
• NM_000018.4:c.495G>TMANE SELECT
• NM_001033859.3:c.429G>T
• NM_001270447.2:c.564G>T
• NM_001270448.2:c.267G>T
• NP_000009.1:p.Glu165Asp
• NP_000009.1:p.Glu165Asp
• NP_000009.1:p.Glu165Asp
• NP_001029031.1:p.Glu143Asp
• NP_001257376.1:p.Glu188Asp
• NP_001257377.1:p.Glu89Asp
• NP_001257377.1:p.Glu89Asp
• NC_000017.10:g.7124874G>T
• NM_000018.3:c.495G>T
• NM_001270448.1:c.267G>T

This HGVS expression did not pass validation

Protein change:

E143D

Links:

dbSNP: rs370169077

NCBI 1000 Genomes Browser:

rs370169077

Molecular consequence:

• NM_000018.4:c.495G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.429G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.564G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.267G>T - missense variant - [Sequence Ontology: SO:0001583]