ClinVar

NM_000016.6(ACADM):c.1205G>T (p.Gly402Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75762702 (on Assembly GRCh38)
• Chr1: 76228387 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.1205G>T (p.Gly402Val)

HGVS:

• NC_000001.11:g.75762702G>T
• NG_007045.2:g.43345G>T
• NM_000016.6:c.1205G>TMANE SELECT
• NM_001127328.3:c.1217G>T
• NM_001286042.2:c.1097G>T
• NM_001286043.2:c.1304G>T
• NM_001286044.2:c.638G>T
• NP_000007.1:p.Gly402Val
• NP_001120800.1:p.Gly406Val
• NP_001272971.1:p.Gly366Val
• NP_001272972.1:p.Gly435Val
• NP_001272973.1:p.Gly213Val
• LRG_838t1:c.1205G>T
• LRG_838:g.43345G>T
• NC_000001.10:g.76228387G>T
• NM_000016.4:c.1205G>T
• NM_000016.5:c.1205G>T

This HGVS expression did not pass validation

Protein change:

G213V

Links:

dbSNP: rs1553127382

NCBI 1000 Genomes Browser:

rs1553127382

Molecular consequence:

• NM_000016.6:c.1205G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127328.3:c.1217G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286042.2:c.1097G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286043.2:c.1304G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286044.2:c.638G>T - missense variant - [Sequence Ontology: SO:0001583]