Variant (rsID / SNP)
rs77820367
rs77820367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCB. Location: chromosome 3, position 136,016,902. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PCCBConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:136016902
- Cytoband
- 3q22.3
- HGVS
- NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr)
- Allele change
- Missense_C291Y
Associated conditions / phenotypes
Propionic acidemia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.