ClinVar

NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 183037337 (on Assembly GRCh38)
• Chr3: 182755125 (on Assembly GRCh37)

Preferred name:

NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)

HGVS:

• NC_000003.12:g.183037337T>C
• NG_008100.1:g.67241A>G
• NM_001293273.2:c.1124A>G
• NM_001363880.1:c.1148A>G
• NM_020166.5:c.1475A>GMANE SELECT
• NP_001280202.1:p.His375Arg
• NP_001350809.1:p.His383Arg
• NP_064551.3:p.His492Arg
• NC_000003.11:g.182755125T>C
• NR_120639.2:n.1298A>G

This HGVS expression did not pass validation

Protein change:

H375R

Links:

dbSNP: rs1713701795

NCBI 1000 Genomes Browser:

rs1713701795

Molecular consequence:

• NM_001293273.2:c.1124A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363880.1:c.1148A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_020166.5:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_120639.2:n.1298A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]