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Variant : CV534016 (NC_000022.10:g.(?_41697339)_(42466321_?)del) Homo sapiens

Symbol: CV534016
Name: NC_000022.10:g.(?_41697339)_(42466321_?)del
Condition: Common variable immunodeficiency 4 [RCV000648330]
Clinical Significance: uncertain significance
Last Evaluated: 08/27/2017
Review Status: criteria provided, single submitter
Related Genes: ACO2   CCDC134   CENPM   CSDC2   DESI1   LINC00634   MEI1   MIR33A   MIR378I   NAGA   PHF5A   PMM1   POLR3H   RANGAP1   SEPTIN3   SHISA8   SNU13   SREBF2   SREBF2-AS1   TEF   TNFRSF13C   TOB2   WBP2NL   XRCC6   ZC3H7B  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_41697339)_(42466321_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382241,301,335 - 42,070,317CLINVAR
GRCh372241,697,339 - 42,466,321CLINVAR
Cytogenetic Map2222q13.2CLINVAR
Trait Synonyms: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13621395
Created: 2018-06-12
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.