ClinVar

NM_000016.6(ACADM):c.118G>C (p.Glu40Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75728488 (on Assembly GRCh38)
• Chr1: 76194173 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.118G>C (p.Glu40Gln)

HGVS:

• NC_000001.11:g.75728488G>C
• NG_007045.2:g.9131G>C
• NM_000016.6:c.118G>CMANE SELECT
• NM_001127328.3:c.130G>C
• NM_001286042.2:c.10+3671G>C
• NM_001286043.2:c.118G>C
• NM_001286044.2:c.-268+3671G>C
• NP_000007.1:p.Glu40Gln
• NP_000007.1:p.Glu40Gln
• NP_001120800.1:p.Glu44Gln
• NP_001272972.1:p.Glu40Gln
• LRG_838:g.9131G>C
• NC_000001.10:g.76194173G>C
• NM_000016.4:c.118G>C

This HGVS expression did not pass validation

Protein change:

E40Q

Links:

dbSNP: rs398123071

NCBI 1000 Genomes Browser:

rs398123071

Molecular consequence:

• NM_001286042.2:c.10+3671G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286044.2:c.-268+3671G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_000016.6:c.118G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127328.3:c.130G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286043.2:c.118G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1