ClinVar

NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7223980 (on Assembly GRCh38)
• Chr17: 7127299 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1345G>C (p.Glu449Gln)

HGVS:

• NC_000017.11:g.7223980G>C
• NG_007975.1:g.9147G>C
• NG_008391.2:g.1071C>G
• NG_033038.1:g.15565C>G
• NM_000018.4:c.1345G>CMANE SELECT
• NM_001033859.3:c.1279G>C
• NM_001270447.2:c.1414G>C
• NM_001270448.2:c.1117G>C
• NP_000009.1:p.Glu449Gln
• NP_001029031.1:p.Glu427Gln
• NP_001257376.1:p.Glu472Gln
• NP_001257377.1:p.Glu373Gln
• NC_000017.10:g.7127299G>C
• NM_000018.3:c.1345G>C

This HGVS expression did not pass validation

Protein change:

E373Q

Links:

dbSNP: rs398123081

NCBI 1000 Genomes Browser:

rs398123081

Molecular consequence:

• NM_000018.4:c.1345G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1279G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1414G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.1117G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4