LRRK2 IVS33+6T>A Mutation Details

(Table Legend)

Gene

LRRK2

Name

g.95296T>A (relative to nt1 in NT_029419.11 Region: 2757119..2908338)
g.95296T>A (relative to nt1 in NG_011709.1)

Alias

IVS33+6T>A

Description

Point mutation in intron 33 splice donor site

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

g.95296T>A

Predicted

Region

IVS33

Phenotype

(Pathogenic nature unclear)
Mean of Mean Onset Ages: 62.0y

Frequency

4 Families

Function

No Functional data available

Citations

Skipper L, Neurology 65: 1319-21, 2005

Citation Details

Added: May 18, 2009

ID: 62