Variant (rsID / SNP)

rs368199588

rs368199588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PCNT. Location: chromosome 21, position 47,769,636. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

PCNTConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 21:47769636
Cytoband: 21q22.3
HGVS: NM_006031.6(PCNT):c.1246A>G (p.Ile416Val)
Allele change: Missense_I416V

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.