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Variant (rsID / SNP)

rs145119952

PCNT

rs145119952 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,832,788. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PCNTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
21:47832788
Cytoband
21q22.3
HGVS
NM_006031.6(PCNT):c.6032C>T (p.Ala2011Val)
Allele change
Missense_A2011V

Associated conditions / phenotypes

Microcephalic osteodysplastic primordial dwarfism type II|Microcephaly

Public references

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