Variant (rsID / SNP)
rs143956882
rs143956882 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAPT. Location: chromosome 17, position 44,067,341. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
MAPTConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 17:44067341
- Cytoband
- 17q21.31
- HGVS
- NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe)
- Allele change
- Missense_S427F
Associated conditions / phenotypes
Frontotemporal dementia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.