Variant (rsID / SNP)
rs119103222
rs119103222 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC2. Location: chromosome 5, position 70,898,448. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MCCC2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:70898448
- Cytoband
- 5q13.2
- HGVS
- NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)
- Allele change
- Missense_C167R
Associated conditions / phenotypes
3-methylcrotonyl-CoA carboxylase 2 deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.