MAPT IVS9-10G>T;g(-10)t Mutation Details

(Table Legend)

Gene

MAPT

Name

g.123701G>T (relative to Met1 in AC091628.2)
g.120880G>T (relative to nt1 in NG_007398.1)

Alias

IVS9-10G>T;g(-10)t

Description

Point mutation in intronic region strengthening the polypyrimidine tract and affecting splicing of exon 10

Codon Change

From G to T

dbSNP ID

rs63749974

Details

Genomic

cDNA

Protein

Observed

g.123701G>T

Predicted

Region

IVS9

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 42.7y
Mean of Mean Ages at Death: 50.0y

Frequency

1 Family

Function

No Functional data available

Citations

Malkani R, Neurobiology of Disease 22: 401-403, 2006

Citation Details

Added: February 7, 2007

ID: 334