ClinVar

NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 183039088 (on Assembly GRCh38)
• Chr3: 182756876 (on Assembly GRCh37)

Preferred name:

NM_020166.5(MCCC1):c.1315G>A (p.Val439Met)

HGVS:

• NC_000003.12:g.183039088C>T
• NG_008100.1:g.65490G>A
• NM_001293273.2:c.964G>A
• NM_001363880.1:c.988G>A
• NM_020166.5:c.1315G>AMANE SELECT
• NP_001280202.1:p.Val322Met
• NP_001350809.1:p.Val330Met
• NP_064551.3:p.Val439Met
• NP_064551.3:p.Val439Met
• NP_064551.3:p.Val439Met
• NC_000003.11:g.182756876C>T
• NM_020166.3:c.1315G>A
• NM_020166.4:c.1315G>A
• NR_120639.2:n.1138G>A
• NR_120640.2:n.1982G>A
• Q96RQ3:p.Val439Met

This HGVS expression did not pass validation

Protein change:

V322M

Links:

UniProtKB: Q96RQ3#VAR_072504; dbSNP: rs398124352

NCBI 1000 Genomes Browser:

rs398124352

Molecular consequence:

• NM_001293273.2:c.964G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363880.1:c.988G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020166.5:c.1315G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_120639.2:n.1138G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_120640.2:n.1982G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

2