Variant (rsID / SNP)
rs781556055
rs781556055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCCB. Location: chromosome 3, position 136,047,653. 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
- 3:136047653
- Cytoband
- 3q22.3
- HGVS
- NM_000532.5(PCCB):c.1452A>G (p.Ala484=)
- Allele change
- Synonymous_A484A
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.