Variant (rsID / SNP)

rs117987006

rs117987006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,809,254. Clinical significance in the table: Likely benign.

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Reference-table entries

PCNTLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 21:47809254
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.3748C>T (p.Arg1250Trp)
Allele change: Missense_R1250W

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.