ClinVar

NM_000016.6(ACADM):c.125C>T (p.Thr42Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75732650 (on Assembly GRCh38)
• Chr1: 76198335 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.125C>T (p.Thr42Ile)

HGVS:

• NC_000001.11:g.75732650C>T
• NG_007045.2:g.13293C>T
• NM_000016.6:c.125C>TMANE SELECT
• NM_001127328.3:c.137C>T
• NM_001286042.2:c.17C>T
• NM_001286043.2:c.125C>T
• NM_001286044.2:c.-261C>T
• NP_000007.1:p.Thr42Ile
• NP_001120800.1:p.Thr46Ile
• NP_001272971.1:p.Thr6Ile
• NP_001272972.1:p.Thr42Ile
• LRG_838:g.13293C>T
• NC_000001.10:g.76198335C>T

This HGVS expression did not pass validation

Protein change:

T42I

Links:

dbSNP: rs759997176

NCBI 1000 Genomes Browser:

rs759997176

Molecular consequence:

• NM_001286044.2:c.-261C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000016.6:c.125C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127328.3:c.137C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286042.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286043.2:c.125C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1