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Variant : CV16650 (L2HGDH, EX1-9 DEL) Homo sapiens

Symbol: CV16650
Name: L2HGDH, EX1-9 DEL
Condition: L-2-hydroxyglutaric aciduria [RCV000001678]
Clinical Significance: pathogenic
Last Evaluated: 03/11/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: L2HGDH   LINC01588   LINC01599   SOS2   VCPKMT  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Nucleotide Change: ex1-9 del
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
GRCh381450,000,000 - 50,247,254CLINVAR
Cytogenetic Map1414q22.1CLINVAR
Age Of Onset: childhood
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8556349
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-14
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.