Variant (rsID / SNP)
rs144203670
rs144203670 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MCCC2. Location: chromosome 5, position 70,931,069. 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
- 5:70931069
- Cytoband
- 5q13.2
- HGVS
- NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln)
- Allele change
- Missense_R332Q
Associated conditions / phenotypes
3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.