Variant (rsID / SNP)

rs63750197

rs63750197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN2. Location: chromosome 1, position 227,073,271. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PSEN2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:227073271
Cytoband: 1q42.13
HGVS: NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)
Allele change: Missense_S130L

Associated conditions / phenotypes

Alzheimer disease 4|Dilated cardiomyopathy 1V|Alzheimer disease

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.