Variant (rsID / SNP)

rs63750869

rs63750869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAPT. Location: chromosome 17, position 44,096,073. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

MAPTPathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 17:44096073
Cytoband: 17q21.31
HGVS: NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile)
Allele change: Missense_V680I

Associated conditions / phenotypes

Frontotemporal dementia

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.