Variant (rsID / SNP)
rs181690344
rs181690344 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,773,029. Clinical significance in the table: Pathogenic.
Reference-table entries
PCNTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:47773029
- Cytoband
- 21q22.3
- HGVS
- NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)
- Allele change
- Nonsense_Q490X
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.