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Variant : CV361737 (HRG, CYS223ARG) Homo sapiens

Symbol: CV361737
Name: HRG, CYS223ARG
Condition: Thrombophilia, histidine-rich glycoprotein-related [RCV000415557]
Clinical Significance: pathogenic
Last Evaluated: 12/21/2016
Review Status: no assertion criteria provided
Related Genes: HRG  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic Map33q27.3CLINVAR
Trait Synonyms: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12741356
Created: 2017-02-07
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.