Variant (rsID / SNP)

rs63750072

rs63750072 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAPT. Location: chromosome 17, position 44,060,859. Clinical significance in the table: Benign.

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Reference-table entries

MAPTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:44060859
Cytoband: 17q21.31
HGVS: NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)
Allele change: Missense_Q230R

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.