Variant (rsID / SNP)
rs879253823
rs879253823 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MMUT. Location: chromosome 6, position 49,427,124. Clinical significance in the table: Pathogenic.
Reference-table entries
MMUTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Chromosome / position
- 6:49427124
- Cytoband
- 6p12.3
- HGVS
- NM_000255.4(MMUT):c.55dup (p.Val19fs)
Associated conditions / phenotypes
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.