ClinVar

NM_020166.5(MCCC1):c.873G>A (p.Ala291=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 183057311 (on Assembly GRCh38)
• Chr3: 182775099 (on Assembly GRCh37)

Preferred name:

NM_020166.5(MCCC1):c.873G>A (p.Ala291=)

HGVS:

• NC_000003.12:g.183057311C>T
• NG_008100.1:g.47267G>A
• NM_001293273.2:c.522G>A
• NM_001363880.1:c.546G>A
• NM_020166.5:c.873G>AMANE SELECT
• NP_001280202.1:p.Ala174=
• NP_001350809.1:p.Ala182=
• NP_064551.3:p.Ala291=
• NC_000003.11:g.182775099C>T
• NM_020166.3:c.873G>A
• NM_020166.4:c.873G>A
• NP_064551.3:p.(=)
• NR_120639.2:n.696G>A
• NR_120640.2:n.1540G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs138794621

NCBI 1000 Genomes Browser:

rs138794621

Molecular consequence:

• NR_120639.2:n.696G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_120640.2:n.1540G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001293273.2:c.522G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001363880.1:c.546G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020166.5:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]