Variant (rsID / SNP)

rs147189224

rs147189224 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,832,836. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PCNTBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:47832836
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.6080A>G (p.Gln2027Arg)
Allele change: Missense_Q2027R

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.