Variant (rsID / SNP)

rs369195346

rs369195346 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,831,565. Clinical significance in the table: Pathogenic.

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Reference-table entries

PCNTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:47831565
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter)
Allele change: Nonsense_E1860X

Associated conditions / phenotypes

Microcephalic osteodysplastic primordial dwarfism type II

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.