Variant (rsID / SNP)
rs143511166
rs143511166 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,845,737. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PCNTConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:47845737
- Cytoband
- 21q22.3
- HGVS
- NM_006031.6(PCNT):c.7180-8C>T
- Allele change
- Silent
Associated conditions / phenotypes
Microcephalic osteodysplastic primordial dwarfism type II
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.