ClinVar

NM_020166.5(MCCC1):c.726T>C (p.Asp242=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 183071034 (on Assembly GRCh38)
• Chr3: 182788822 (on Assembly GRCh37)

Preferred name:

NM_020166.5(MCCC1):c.726T>C (p.Asp242=)

Other names:

p.D242D:GAT>GAC

HGVS:

• NC_000003.12:g.183071034A>G
• NG_008100.1:g.33544T>C
• NM_001293273.2:c.375T>C
• NM_001363880.1:c.399T>C
• NM_020166.5:c.726T>CMANE SELECT
• NP_001280202.1:p.Asp125=
• NP_001350809.1:p.Asp133=
• NP_064551.3:p.Asp242=
• NC_000003.11:g.182788822A>G
• NM_020166.3:c.726T>C
• NM_020166.4:c.726T>C
• NR_120639.2:n.549T>C
• NR_120640.2:n.1393T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs36206712

NCBI 1000 Genomes Browser:

rs36206712

Molecular consequence:

• NR_120639.2:n.549T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_120640.2:n.1393T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001293273.2:c.375T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363880.1:c.399T>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020166.5:c.726T>C - synonymous variant - [Sequence Ontology: SO:0001819]