GRN IVS1+5G>C Mutation Details

(Table Legend)

Gene

GRN

Name

g.-3826G>C (relative to Met1 in Reverse Complement of AC003043.1)
g.5217G>C (relative to nt1 in NG_007886.1)

Alias

IVS1+5G>C

Description

Point mutation in intron 1 splice donor site causing intron 1 retention resulting in nuclear mRNA degradation

Codon Change

From --- to ---

dbSNP ID

rs63750313

Details

Genomic

cDNA

Protein

Observed

g.-3826G>C

c.0

p.0

Predicted

c.-8_-7ins3823

Region

IVS1

Complete protein

Phenotype

Frontotemporal Dementia
Mean of Mean Onset Ages: 61.3y
Mean of Mean Ages at Death: 68.7y

Frequency

10 Families

Function

No Functional data available

Citations

Cruts M, Nature 442: 920-924, 2006
Brouwers N, Archives of Neurology 64: 1436-1446, 2007

Citation Details

Added: August 23, 2006
Last Modified: January 31, 2008

ID: 266