ClinVar

NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 7223871 (on Assembly GRCh38)
• Chr17: 7127190 (on Assembly GRCh37)

Preferred name:

NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg)

HGVS:

• NC_000017.11:g.7223871T>G
• NG_007975.1:g.9038T>G
• NG_008391.2:g.1180A>C
• NG_033038.1:g.15674A>C
• NM_000018.4:c.1328T>GMANE SELECT
• NM_001033859.3:c.1262T>G
• NM_001270447.2:c.1397T>G
• NM_001270448.2:c.1100T>G
• NP_000009.1:p.Met443Arg
• NP_001029031.1:p.Met421Arg
• NP_001257376.1:p.Met466Arg
• NP_001257377.1:p.Met367Arg
• NP_001257377.1:p.Met367Arg
• NC_000017.10:g.7127190T>G
• NM_000018.3:c.1328T>G
• NM_001270448.1:c.1100T>G

This HGVS expression did not pass validation

Protein change:

M367R

Links:

dbSNP: rs886043236

NCBI 1000 Genomes Browser:

rs886043236

Molecular consequence:

• NM_000018.4:c.1328T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001033859.3:c.1262T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270447.2:c.1397T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001270448.2:c.1100T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1