ClinVar

NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.1

Genomic location:

• Chr1: 75761231 (on Assembly GRCh38)
• Chr1: 76226916 (on Assembly GRCh37)

Preferred name:

NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys)

HGVS:

• NC_000001.11:g.75761231A>G
• NG_007045.2:g.41874A>G
• NM_000016.6:c.1055A>GMANE SELECT
• NM_001127328.3:c.1067A>G
• NM_001286042.2:c.947A>G
• NM_001286043.2:c.1154A>G
• NM_001286044.2:c.488A>G
• NP_000007.1:p.Tyr352Cys
• NP_001120800.1:p.Tyr356Cys
• NP_001272971.1:p.Tyr316Cys
• NP_001272972.1:p.Tyr385Cys
• NP_001272973.1:p.Tyr163Cys
• LRG_838:g.41874A>G
• NC_000001.10:g.76226916A>G
• NM_000016.4:c.1055A>G

This HGVS expression did not pass validation

Protein change:

Y163C

Links:

dbSNP: rs1227800781

NCBI 1000 Genomes Browser:

rs1227800781

Molecular consequence:

• NM_000016.6:c.1055A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127328.3:c.1067A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286042.2:c.947A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286043.2:c.1154A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286044.2:c.488A>G - missense variant - [Sequence Ontology: SO:0001583]