Variant (rsID / SNP)
rs148444313
rs148444313 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,838,129. 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
- 21:47838129
- Cytoband
- 21q22.3
- HGVS
- NM_006031.6(PCNT):c.6933C>T (p.Val2311=)
- Allele change
- Synonymous_V2311V
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.