PARK2 ex1-4del (breakpoints not mapped) Mutation Details

(Table Legend)

Gene

PARK2

Name

(relative to nt1 in Reverse Complement of NT_025741.15 Region: 7901234..9288478)
(relative to nt1 in NG_008289.1)

Alias

ex1-4del (breakpoints not mapped)

Description

Genomic deletion containing exons 1 to 4 resulting in in-frame skipping of exons 1 to 4

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(-134-?)_(534+?)del

p.?

Region

EX1-4

CDS

UBL

Notes

WARNING!!: This record groups all families with a PARK2 exon 1 to 4 deletion of which the breakpoints in the 5' flanking region and intron 4 are undetermined.
These deletions in different families could all be of differing length and/or be independent events.

Phenotype

Mean of Mean Onset Ages: 16.0y

Frequency

1 Family

Function

No Functional data available

Citations

Chung SJ, Mov Disord 23: 624-6, 2008

Citation Details

Added: July 16, 2009

ID: 337