ClinVar

NM_000016.6(ACADM):c.1186A>G (p.Ile396Val)

Gene:

ACADM:acyl-CoA dehydrogenase medium chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75761362 (on Assembly GRCh38)
• Chr1: 76227047 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.1186A>G (p.Ile396Val)

HGVS:

• NC_000001.11:g.75761362A>G
• NG_007045.2:g.42005A>G
• NM_000016.6:c.1186A>GMANE SELECT
• NM_001127328.3:c.1198A>G
• NM_001286042.2:c.1078A>G
• NM_001286043.2:c.1285A>G
• NM_001286044.2:c.619A>G
• NP_000007.1:p.Ile396Val
• NP_001120800.1:p.Ile400Val
• NP_001272971.1:p.Ile360Val
• NP_001272972.1:p.Ile429Val
• NP_001272973.1:p.Ile207Val
• LRG_838:g.42005A>G
• NC_000001.10:g.76227047A>G

This HGVS expression did not pass validation

Protein change:

I207V

Links:

dbSNP: rs1171321888

NCBI 1000 Genomes Browser:

rs1171321888

Molecular consequence:

• NM_000016.6:c.1186A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127328.3:c.1198A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286042.2:c.1078A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286043.2:c.1285A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286044.2:c.619A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2