Variant (rsID / SNP)

rs63750048

rs63750048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN2. Location: chromosome 1, position 227,071,518. Clinical significance in the table: Pathogenic.

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Reference-table entries

PSEN2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:227071518
Cytoband: 1q42.13
HGVS: NM_000447.3(PSEN2):c.254C>T (p.Ala85Val)
Allele change: Missense_A85V

Associated conditions / phenotypes

Alzheimer disease 4

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.