Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV29847 (IGHG2, 1-BP INS, 1793G) Homo sapiens

Symbol: CV29847
Name: IGHG2, 1-BP INS, 1793G
Condition: Immunoglobulin IgG2 deficiency [RCV000015931]
Clinical Significance: pathogenic
Last Evaluated: 08/11/2015
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: IGHG2  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Nucleotide Change: 1-bp ins, 1793g
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic Map1414q32.33CLINVAR
Trait Synonyms: Igg2 deficiency, selective; Reduced IgG2 levels



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8564466
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.