Variant (rsID / SNP)

rs63750687

rs63750687 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN1. Location: chromosome 14, position 73,683,845. 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: 14:73683845
Cytoband: 14q24.2
HGVS: NM_000021.4(PSEN1):c.1141C>G (p.Leu381Val)
Allele change: Missense_L381V

Associated conditions / phenotypes

Alzheimer disease 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.