Variant (rsID / SNP)
rs119103219
rs119103219 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC2. Location: chromosome 5, position 70,895,499. Clinical significance in the table: Pathogenic.
Reference-table entries
MCCC2Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:70895499
- Cytoband
- 5q13.2
- HGVS
- NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)
- Allele change
- Missense_E99Q
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.