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Variant (rsID / SNP)

rs63750424

MAPT

rs63750424 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAPT. Location: chromosome 17, position 44,101,427. Clinical significance in the table: Pathogenic.

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Reference-table entries

MAPTPathogenic
Clinical significance (as recorded)
Pathogenic
Variant type
single nucleotide variant
Chromosome / position
17:44101427
Cytoband
17q21.31
HGVS
NM_001377265.1(MAPT):c.2392C>T (p.Arg798Trp)
Allele change
Missense_R723W

Associated conditions / phenotypes

Frontotemporal dementia|Parkinson disease, late-onset|Progressive supranuclear palsy-parkinsonism syndrome|Pick disease|Progressive supranuclear ophthalmoplegia|Frontotemporal dementia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.