ClinVar

NM_000016.6(ACADM):c.564G>A (p.Gln188=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75740075 (on Assembly GRCh38)
• Chr1: 76205760 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.564G>A (p.Gln188=)

HGVS:

• NC_000001.11:g.75740075G>A
• NG_007045.2:g.20718G>A
• NM_000016.6:c.564G>AMANE SELECT
• NM_001127328.3:c.576G>A
• NM_001286042.2:c.456G>A
• NM_001286043.2:c.663G>A
• NM_001286044.2:c.-4G>A
• NP_000007.1:p.Gln188=
• NP_001120800.1:p.Gln192=
• NP_001272971.1:p.Gln152=
• NP_001272972.1:p.Gln221=
• LRG_838:g.20718G>A
• NC_000001.10:g.76205760G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1647481720

NCBI 1000 Genomes Browser:

rs1647481720

Molecular consequence:

• NM_001286044.2:c.-4G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000016.6:c.564G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127328.3:c.576G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286042.2:c.456G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286043.2:c.663G>A - synonymous variant - [Sequence Ontology: SO:0001819]