Variant (rsID / SNP)

rs147702142

rs147702142 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN2. Location: chromosome 1, position 227,076,719. 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: 1:227076719
Cytoband: 1q42.13
HGVS: NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
Allele change: Synonymous_A252A

Associated conditions / phenotypes

Dilated cardiomyopathy 1V|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.