ClinVar

NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)

Gene:

MCCC2:methylcrotonyl-CoA carboxylase subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q13.2

Genomic location:

• Chr5: 71635242 (on Assembly GRCh38)
• Chr5: 70931069 (on Assembly GRCh37)

Preferred name:

NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)

HGVS:

• NC_000005.10:g.71635242G>A
• NG_008882.1:g.52955G>A
• NM_001363147.1:c.881G>A
• NM_022132.5:c.995G>AMANE SELECT
• NP_001350076.1:p.Arg294Gln
• NP_071415.1:p.Arg332Gln
• NC_000005.9:g.70931069G>A
• NM_022132.4:c.995G>A

This HGVS expression did not pass validation

Protein change:

R294Q

Links:

dbSNP: rs144203670

NCBI 1000 Genomes Browser:

rs144203670

Molecular consequence:

• NM_001363147.1:c.881G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022132.5:c.995G>A - missense variant - [Sequence Ontology: SO:0001583]