Variant (rsID / SNP)
rs121917809
rs121917809 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PSEN1. Location: chromosome 14, position 73,678,519. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
PSEN1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 14:73678519
- Cytoband
- 14q24.2
- HGVS
- NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)
- Allele change
- Missense_D333G
Associated conditions / phenotypes
Dilated cardiomyopathy 1U|Heart failure|Primary dilated cardiomyopathy|Pick disease|Frontotemporal dementia|Alzheimer disease 3|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.