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Variant : CV306772 (NM_004562.3(PRKN):c.*2480C>A) Homo sapiens

Symbol: CV306772
Name: NM_004562.3(PRKN):c.*2480C>A
Condition: Parkinson Disease, Juvenile [RCV000377590]
Clinical Significance: benign
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: PRKN  
Variant Type: single nucleotide variant (SO:0001624)
Source: CLINVAR
Molecular Consequence: 3 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.161347619G>T
NC_000006.11:g.161768651G>T
NG_008289.2:g.1385184C>A
NM_004562.3:c.*2480C>A
NM_013987.3:c.*2480C>A
NM_013988.3:c.*2480C>A
NM_004562.2:c.*2480C>A
Position
Human AssemblyChrPosition (strand)Source
GRCh386161,347,619 - 161,347,619CLINVAR
GRCh376161,768,651 - 161,768,651CLINVAR
Cytogenetic Map66q26CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11610151
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.