Variant (rsID / SNP)

rs147358856

rs147358856 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,786,722. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PCNTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:47786722
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.2833C>T (p.Arg945Cys)
Allele change: Missense_R945C

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.