ClinVar

NM_000016.6(ACADM):c.177A>C (p.Glu59Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75732702 (on Assembly GRCh38)
• Chr1: 76198387 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.177A>C (p.Glu59Asp)

HGVS:

• NC_000001.11:g.75732702A>C
• NG_007045.2:g.13345A>C
• NM_000016.6:c.177A>CMANE SELECT
• NM_001127328.3:c.189A>C
• NM_001286042.2:c.69A>C
• NM_001286043.2:c.177A>C
• NM_001286044.2:c.-209A>C
• NP_000007.1:p.Glu59Asp
• NP_001120800.1:p.Glu63Asp
• NP_001272971.1:p.Glu23Asp
• NP_001272972.1:p.Glu59Asp
• LRG_838:g.13345A>C
• NC_000001.10:g.76198387A>C
• NM_000016.4:c.177A>C

This HGVS expression did not pass validation

Protein change:

E23D

Links:

dbSNP: rs1057520214

NCBI 1000 Genomes Browser:

rs1057520214

Molecular consequence:

• NM_001286044.2:c.-209A>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000016.6:c.177A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127328.3:c.189A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286042.2:c.69A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286043.2:c.177A>C - missense variant - [Sequence Ontology: SO:0001583]