PINK1 IVS1-7A>G Mutation Details

(Table Legend)

Gene

PINK1

Name

g.159642A>G (relative to nt1 in AL391357.20)
g.09381A>G (relative to nt1 in NG_008164.1)

Alias

IVS1-7A>G

Description

Point mutation in intron 1 splice acceptor site

Codon Change

Not Applicable

dbSNP ID

rs2298298

Details

Genomic

cDNA

Protein

Observed

g.159642A>G

Predicted

Region

IVS1

Phenotype

(Not pathogenic)

Function

No Functional data available

Citations

Valente EM, Science 304: 1158-60, 2004
Valente EM, Ann Neurol 56: 336-41, 2004
Clarimón J, Neurobiol Aging 27: 906-7, 2006
Godeiro-Junior C, Mov Disord Epub: , 2009

Citation Details

Added: July 27, 2009

ID: 351