Alzheimer Disease & Frontotemporal Dementia Mutation Database

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MAPT IVS10+12C>T Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123815C>T (relative to Met1 in AC091628.2)
g.120994C>T (relative to nt1 in NG_007398.1)

Alias

IVS10+12C>T

Description

Point mutation in intronic region affecting splicing of exon 10

Codon Change

From C to T

dbSNP ID

rs63750916

Details

Genomic

cDNA

Protein

Observed

g.123815C>T

Predicted

Region

IVS10

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 53.0y
Mean of Mean Ages at Death: 65.0y

Frequency

1 Family

Function

No Functional data available

Citations

Takamatsu, Dementia and Geriatric Cognitive Disorders 9: 82-89, 1998
Hutton M, Annals of Neurology 47: 417-418, 2000
Yasuda M, Annals of Neurology 47: 422-429, 2000

Citation Details

Added: December 21, 2003

ID: 199



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