Variant (rsID / SNP)
rs115605600
rs115605600 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC1. Location: chromosome 3, position 182,733,225. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MCCC1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:182733225
- Cytoband
- 3q27.1
- HGVS
- NM_020166.5(MCCC1):c.*1A>T
- Allele change
- Silent
Associated conditions / phenotypes
3-methylcrotonyl-CoA carboxylase 1 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.