GRN Gln125X Mutation Details

(Table Legend)

Gene

GRN

Name

g.1087C>T (relative to Met1 in Reverse Complement of AC003043.1)
g.10129C>T (relative to nt1 in NG_007886.1)

Alias

Gln125X

Description

Point mutation in coding region creating a premature termination codon resulting in nonsense-mediated mRNA decay

Codon Change

From CAG to TAG

dbSNP ID

rs63750077

Details

Genomic

cDNA

Protein

Observed

g.1087C>T

c.0

p.0

Predicted

c.373C>T

p.Q125X

Region

EX5

CDS

GranF

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 64.9y
Mean of Mean Ages at Death: 70.0y

Frequency

1 Family

Function

No Functional data available

Citations

Baker M, Nature 442: 916-919, 2006
Cruts M, Nature 442: 920-924, 2006
Bronner IF, European Journal of Human Genetics 15: 369-374, 2007

Citation Details

Added: August 23, 2006
Last Modified: January 24, 2007

ID: 265