Variant (rsID / SNP)
rs17125721
rs17125721 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN1. Location: chromosome 14, position 73,673,178. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
PSEN1Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:73673178
- Cytoband
- 14q24.2
- HGVS
- NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
- Allele change
- Missense_E318G
Associated conditions / phenotypes
Alzheimer disease|Alzheimer disease 3|Dilated cardiomyopathy 1U|Alzheimer disease 3|Frontotemporal dementia|Pick disease|Acne inversa, familial, 3
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.