PINK1 IVS4-5G>A Mutation Details

(Table Legend)

Gene

PINK1

Name

g.167362G>A (relative to nt1 in AL391357.20)
g.17101G>A (relative to nt1 in NG_008164.1)

Alias

IVS4-5G>A

Description

Point mutation in intron 4 splice acceptor site

Codon Change

Not Applicable

dbSNP ID

rs3131713

Details

Genomic

cDNA

Protein

Observed

g.167362G>A

Predicted

Region

IVS4

Phenotype

(Not pathogenic)

Function

No Functional data available

Citations

Valente EM, Science 304: 1158-60, 2004
Valente EM, Ann Neurol 56: 336-41, 2004
Schlitter AM, J Negat Results Biomed 4: , 2005
Godeiro-Junior C, Mov Disord Epub: , 2009

Citation Details

Added: July 27, 2009

ID: 352