ClinVar

NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75740094 (on Assembly GRCh38)
• Chr1: 76205779 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.583G>A (p.Gly195Arg)

Other names:

G170R

HGVS:

• NC_000001.11:g.75740094G>A
• NG_007045.2:g.20737G>A
• NM_000016.6:c.583G>AMANE SELECT
• NM_001127328.3:c.595G>A
• NM_001286042.2:c.475G>A
• NM_001286043.2:c.682G>A
• NM_001286044.2:c.16G>A
• NP_000007.1:p.Gly195Arg
• NP_000007.1:p.Gly195Arg
• NP_000007.1:p.Gly195Arg
• NP_001120800.1:p.Gly199Arg
• NP_001272971.1:p.Gly159Arg
• NP_001272972.1:p.Gly228Arg
• NP_001272973.1:p.Gly6Arg
• LRG_838t1:c.583G>A
• LRG_838:g.20737G>A
• LRG_838p1:p.Gly195Arg
• NC_000001.10:g.76205779G>A
• NM_000016.4:c.583G>A
• NM_000016.5:c.583G>A
• P11310:p.Gly195Arg

This HGVS expression did not pass validation

Nucleotide change:

583G>A

Protein change:

G159R; GLY170ARG

Links:

UniProtKB: P11310#VAR_000321; OMIM: 607008.0009; dbSNP: rs121434278

NCBI 1000 Genomes Browser:

rs121434278

Molecular consequence:

• NM_000016.6:c.583G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127328.3:c.595G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286042.2:c.475G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286043.2:c.682G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286044.2:c.16G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

4