ClinVar

NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 183025771 (on Assembly GRCh38)
• Chr3: 182743559 (on Assembly GRCh37)

Preferred name:

NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)

HGVS:

• NC_000003.12:g.183025771C>G
• NG_008100.1:g.78807G>C
• NM_001293273.2:c.1364G>C
• NM_001363880.1:c.1388G>C
• NM_020166.5:c.1715G>CMANE SELECT
• NP_001280202.1:p.Gly455Ala
• NP_001350809.1:p.Gly463Ala
• NP_064551.3:p.Gly572Ala
• NC_000003.11:g.182743559C>G
• NM_020166.3:c.1715G>C
• NR_120640.2:n.2262G>C

This HGVS expression did not pass validation

Protein change:

G455A

Links:

dbSNP: rs182830931

NCBI 1000 Genomes Browser:

rs182830931

Molecular consequence:

• NM_001293273.2:c.1364G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363880.1:c.1388G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_020166.5:c.1715G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_120640.2:n.2262G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]