Variant (rsID / SNP)

rs147637351

rs147637351 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,864,638. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PCNTUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 21:47864638
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.9871A>G (p.Arg3291Gly)
Allele change: Missense_R3291G

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.