Variant (rsID / SNP)

rs362384

rs362384 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN1. Location: chromosome 14, position 73,686,310. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PSEN1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 14:73686310
Cytoband: 14q24.2
HGVS: NM_000021.4(PSEN1):c.*313C>A
Allele change: Silent

Associated conditions / phenotypes

Alzheimer disease 3|Dilated cardiomyopathy 1U

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.