Variant (rsID / SNP)

rs151325202

rs151325202 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,855,954. 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: 21:47855954
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.8889G>A (p.Ser2963=)
Allele change: Synonymous_S2963S

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.