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Variant : CV299590 (NM_004562.3(PRKN):c.783A>G (p.Leu261=)) Homo sapiens

Symbol: CV299590
Name: NM_004562.3(PRKN):c.783A>G (p.Leu261=)
Condition: Parkinson Disease, Juvenile [RCV000383709]|Parkinson disease 2 [RCV000469708]|not provided [RCV000423189]
Clinical Significance: benign|likely benign
Last Evaluated: 12/07/2017
Review Status: criteria provided, multiple submitters, no conflicts|criteria provided, single submitter
Related Genes: PRKN  
Variant Type: single nucleotide variant (SO:0001819)
Source: CLINVAR
Molecular Consequence: synonymous variant
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.161785860T>C
NC_000006.11:g.162206892T>C
NP_004553.2:p.Leu261=
NG_008289.2:g.946943A>G
NM_004562.3:c.783A>G
NM_004562.2:c.783A>G
NM_013988.3:c.336A>G
NM_013987.3:c.699A>G
NP_054643.2:p.Leu112=
NP_054642.2:p.Leu233=
Position
Human AssemblyChrPosition (strand)Source
GRCh386161,785,860 - 161,785,860CLINVAR
GRCh376162,206,892 - 162,206,892CLINVAR
Cytogenetic Map66q26CLINVAR
Trait Synonyms: Parkin Type of Early-Onset Parkinson Disease; Parkin Type of Juvenile Parkinson Disease
Age Of Onset: adult
Prevalence: 1-5 / 10 000



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11596569
Created: 2017-01-11
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.