Variant (rsID / SNP)

rs143796569

rs143796569 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,817,316. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PCNTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:47817316
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
Allele change: Missense_G1452R

Associated conditions / phenotypes

Microcephalic osteodysplastic primordial dwarfism type II|Intellectual disability

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.