ClinVar

NM_000016.6(ACADM):c.579C>T (p.Thr193=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75740090 (on Assembly GRCh38)
• Chr1: 76205775 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.579C>T (p.Thr193=)

HGVS:

• NC_000001.11:g.75740090C>T
• NG_007045.2:g.20733C>T
• NM_000016.6:c.579C>TMANE SELECT
• NM_001127328.3:c.591C>T
• NM_001286042.2:c.471C>T
• NM_001286043.2:c.678C>T
• NM_001286044.2:c.12C>T
• NP_000007.1:p.Thr193=
• NP_001120800.1:p.Thr197=
• NP_001272971.1:p.Thr157=
• NP_001272972.1:p.Thr226=
• NP_001272973.1:p.Thr4=
• LRG_838t1:c.579C>T
• LRG_838:g.20733C>T
• NC_000001.10:g.76205775C>T
• NM_000016.5:c.579C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs534575785

NCBI 1000 Genomes Browser:

rs534575785

Molecular consequence:

• NM_000016.6:c.579C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127328.3:c.591C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286042.2:c.471C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286043.2:c.678C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286044.2:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]