Variant (rsID / SNP)

rs63749824

rs63749824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN1. Location: chromosome 14, position 73,637,653. Clinical significance in the table: Pathogenic.

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Reference-table entries

PSEN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 14:73637653
Cytoband: 14q24.2
HGVS: NM_000021.4(PSEN1):c.236C>T (p.Ala79Val)
Allele change: Missense_A79V

Associated conditions / phenotypes

Alzheimer disease 3|Alzheimer disease 3|Frontotemporal dementia|Pick disease|Acne inversa, familial, 3

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.