Variant (rsID / SNP)

rs113731555

rs113731555 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,769,000. 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: 21:47769000
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.1107T>C (p.His369=)
Allele change: Synonymous_H369H

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.