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Variant : CV22087 (PARK2, 1-BP DEL, 255A) Homo sapiens

Symbol: CV22087
Name: PARK2, 1-BP DEL, 255A
Condition: Parkinson disease 2 [RCV000007464]
Clinical Significance: pathogenic
Last Evaluated: 05/14/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: PRKN  
Variant Type: deletion (SO:0000159)
Nucleotide Change: 1-bp del, 255a
Evidence: literature only
Human AssemblyChrPosition (strand)Source
Cytogenetic Map66q25.2-q27CLINVAR
Trait Synonyms: Parkin Type of Early-Onset Parkinson Disease; Parkin Type of Juvenile Parkinson Disease
Age Of Onset: adulthood
Prevalence: 1-5 / 10 000

Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8559735
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.