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Variant : CV267741 (NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)) Homo sapiens

Symbol: CV267741
Name: NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)
Condition: Parkinson disease 2 [RCV000644914]|not specified [RCV000336291]
Clinical Significance: likely benign|uncertain significance
Last Evaluated: 10/21/2017
Review Status: criteria provided, single submitter
Related Genes: PRKN  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.161350187G>A
NC_000006.11:g.161771219G>A
NP_004553.2:p.Pro437Leu
NG_008289.2:g.1382616C>T
O60260:p.Pro437Leu
NM_013987.3:c.1226C>T
NM_004562.2:c.1310C>T
NP_054643.2:p.Pro288Leu
NP_054642.2:p.Pro409Leu
NM_004562.3:c.1310C>T
NM_013988.3:c.863C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh386161,350,187 - 161,350,187CLINVAR
GRCh376161,771,219 - 161,771,219CLINVAR
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: 11640292
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.