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Variant : CV306811 (NM_004562.3(PRKN):c.-30T>C) Homo sapiens

Symbol: CV306811
Name: NM_004562.3(PRKN):c.-30T>C
Condition: Parkinson Disease, Juvenile [RCV000336948]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: PACRG   PRKN  
Variant Type: single nucleotide variant (SO:0001623)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.162727698A>G
NC_000006.11:g.163148730A>G
NG_008289.2:g.5105T>C
NM_004562.3:c.-30T>C
NM_013988.3:c.-30T>C
NM_001080378.1:c.-77+419A>G
NG_011525.1:g.5567A>G
NM_013987.3:c.-30T>C
NM_152410.2:c.-77+419A>G
NM_004562.2:c.-30T>C
Position
Human AssemblyChrPosition (strand)Source
GRCh386162,727,698 - 162,727,698CLINVAR
GRCh376163,148,730 - 163,148,730CLINVAR
Cytogenetic Map66q26CLINVAR



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11606893
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.