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Variant : CV563481 (NM_004562.3(PRKN):c.4A>G (p.Ile2Val)) Homo sapiens

Symbol: CV563481
Name: NM_004562.3(PRKN):c.4A>G (p.Ile2Val)
Condition: Parkinson disease 2 [RCV000702945]
Clinical Significance: uncertain significance
Last Evaluated: 01/19/2018
Review Status: criteria provided, single submitter
Related Genes: PACRG   PRKN  
Variant Type: single nucleotide variant (SO:0001627)
Source: CLINVAR
Molecular Consequence: intron variant|missense variant
Evidence: clinical testing
HGVS Name(s): NM_152410.2:c.-77+386T>C
NM_004562.3:c.4A>G
NG_008289.2:g.5138A>G
NC_000006.12:g.162727665T>C
NC_000006.11:g.163148697T>C
NP_004553.2:p.Ile2Val
NM_001080378.1:c.-77+386T>C
NP_054642.2:p.Ile2Val
NP_054643.2:p.Ile2Val
NM_013987.3:c.4A>G
NM_013988.3:c.4A>G
NG_011525.1:g.5534T>C
NM_004562.2:c.4A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh386162,727,665 - 162,727,665CLINVAR
GRCh376163,148,697 - 163,148,697CLINVAR
Cytogenetic Map66q26CLINVAR
Trait Synonyms: Parkin Type of Early-Onset Parkinson Disease; Parkin Type of Juvenile Parkinson Disease



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13811147
Created: 2018-11-06
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.