PARK2 ex10-12del (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

ex10-12del (breakpoints not mapped)

Description

Genomic deletion containing exon 10 to 12

Codon Change

Not Applicable

Details

Genomic

cDNA

Protein

Observed

Predicted

c.(1084-?)_(3939+?)del

p.?

Region

EX10-12

CDS

IBR-ring2

Notes

WARNING!!: This record groups all families with a PARK2 exon 10 to 12 deletion of which the breakpoints in intron 9 and 3' flanking region are undetermined.
These deletions in different families could all be of differing length and/or be independent events.

Phenotype

Mean of Mean Onset Ages: 50.0y

Frequency

1 Family

Function

No Functional data available

Citations

Shyu WC, Parkinsonism Relat Disord 11: 173-80, 2005

Citation Details

Added: July 21, 2009

ID: 257