Variant (rsID / SNP)

rs119479062

rs119479062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,831,754. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PCNTPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 21:47831754
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)
Allele change: Nonsense_R1923X

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.