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Variant : CV22073 (NM_004562.2(PRKN):c.172-?_871+?del) Homo sapiens

Symbol: CV22073
Name: NM_004562.2(PRKN):c.172-?_871+?del
Condition: Parkinson disease 2 [RCV000007450]
Clinical Significance: pathogenic
Last Evaluated: 12/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: PRKN  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: ex3-7del
Evidence: literature only
HGVS Name(s): NM_004562.2:c.172-?_871+?del
Position
Human AssemblyChrPosition (strand)Source
GRCh386161,785,772 - 162,262,765CLINVAR
GRCh376162,206,804 - 162,683,797CLINVAR
Cytogenetic Map66q26CLINVAR
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: 8559721
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



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