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Variant : CV22092 (NM_004562.3(PRKN):c.7+1G>T) Homo sapiens

Symbol: CV22092
Name: NM_004562.3(PRKN):c.7+1G>T
Condition: Parkinson disease 2 [RCV000007469]
Clinical Significance: pathogenic
Last Evaluated: 11/05/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: PACRG   PRKN  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: 2kb upstream variant|intron|intron variant|splice donor variant|splice-5
Nucleotide Change: ivs1ds, g-t, +1
Evidence: literature only
HGVS Name(s): NC_000006.12:g.162727661C>A
NC_000006.11:g.163148693C>A
NG_008289.2:g.5142G>T
NM_001080378.1:c.-77+382C>A
NM_152410.2:c.-77+382C>A
NM_004562.3:c.7+1G>T
NM_013987.3:c.7+1G>T
NM_013988.3:c.7+1G>T
NG_011525.1:g.5530C>A
NM_004562.2:c.7+1G>T
Position
Human AssemblyChrPosition (strand)Source
GRCh386162,727,661 - 162,727,661CLINVAR
GRCh376163,148,693 - 163,148,693CLINVAR
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: 8597326
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.