ClinVar

NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)

Gene:

MCCC1:methylcrotonyl-CoA carboxylase subunit 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 183015527 (on Assembly GRCh38)
• Chr3: 182733315 (on Assembly GRCh37)

Preferred name:

NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)

HGVS:

• NC_000003.12:g.183015527C>T
• NG_008100.1:g.89051G>A
• NM_001293273.2:c.1738G>A
• NM_001363880.1:c.1762G>A
• NM_020166.5:c.2089G>AMANE SELECT
• NP_001280202.1:p.Val580Met
• NP_001350809.1:p.Val588Met
• NP_064551.3:p.Val697Met
• NC_000003.11:g.182733315C>T
• NR_120639.2:n.1862G>A
• NR_120640.2:n.2636G>A

This HGVS expression did not pass validation

Protein change:

V580M

Links:

dbSNP: rs776138490

NCBI 1000 Genomes Browser:

rs776138490

Molecular consequence:

• NM_001293273.2:c.1738G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363880.1:c.1762G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020166.5:c.2089G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_120639.2:n.1862G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_120640.2:n.2636G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]