Variant (rsID / SNP)
rs151020551
rs151020551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,783,614. Clinical significance in the table: Pathogenic.
Reference-table entries
PCNTPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 21:47783614
- Cytoband
- 21q22.3
- HGVS
- NM_006031.6(PCNT):c.2374C>T (p.Arg792Ter)
- Allele change
- Nonsense_R792X
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.