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Variant (rsID / SNP)

rs63749851

PSEN2

rs63749851 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN2. Location: chromosome 1, position 227,073,246. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PSEN2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:227073246
Cytoband
1q42.13
HGVS
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro)
Allele change
Missense_T122P

Associated conditions / phenotypes

Alzheimer disease 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.