ClinVar

NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75734833 (on Assembly GRCh38)
• Chr1: 76200518 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.430A>T (p.Lys144Ter)

HGVS:

• NC_000001.11:g.75734833A>T
• NG_007045.2:g.15476A>T
• NM_000016.6:c.430A>TMANE SELECT
• NM_001127328.3:c.442A>T
• NM_001286042.2:c.322A>T
• NM_001286043.2:c.529A>T
• NM_001286044.2:c.-100+1911A>T
• NP_000007.1:p.Lys144Ter
• NP_000007.1:p.Lys144Ter
• NP_001120800.1:p.Lys148Ter
• NP_001272971.1:p.Lys108Ter
• NP_001272972.1:p.Lys177Ter
• LRG_838t1:c.430A>T
• LRG_838:g.15476A>T
• LRG_838p1:p.Lys144Ter
• NC_000001.10:g.76200518A>T
• NM_000016.5:c.430A>T

This HGVS expression did not pass validation

Protein change:

K108*

Molecular consequence:

• NM_001286044.2:c.-100+1911A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000016.6:c.430A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001127328.3:c.442A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001286042.2:c.322A>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_001286043.2:c.529A>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1