NC_000022.11:g.(?_41301335)_(42070317_?)delRat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant : CV534016 (NC_000022.11:g.(?_41301335)_(42070317_?)del) Homo sapiens

Symbol: CV534016
Name: NC_000022.11:g.(?_41301335)_(42070317_?)del
RGD ID: 13621395
Condition: Common variable immunodeficiency 4 [RCV000648330]
Clinical Significance: uncertain significance
Last Evaluated: 08/27/2017
Review Status: criteria provided, single submitter
Related Genes: ACO2   AL023553.1   CCDC134   CENPM   CSDC2   DESI1   LINC00634   LOC108348030   LOC110740341   LOC111562373   LOC112695098   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
NC_000022.11:g.(?_41301335)_(42070317_?)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     Click to see Annotation Detail View

Additional References at PubMed
PMID:19666484   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000648330 CLINVAR
MedGen C3150739 CLINVAR
NCBI Gene 105373044 CLINVAR
  108348030 CLINVAR
  110740341 CLINVAR
  111562373 CLINVAR
  112695098 CLINVAR
  ACO2 CLINVAR
  CCDC134 CLINVAR
  CENPM CLINVAR
  CSDC2 CLINVAR
  DESI1 CLINVAR
  LINC00634 CLINVAR
  MEI1 CLINVAR
  MIR33A CLINVAR
  MIR378I CLINVAR
  NAGA CLINVAR
  PHF5A CLINVAR
  PMM1 CLINVAR
  POLR3H CLINVAR
  RANGAP1 CLINVAR
  SEPT3 CLINVAR
  SHISA8 CLINVAR
  SNU13 CLINVAR
  SREBF2 CLINVAR
  SREBF2-AS1 CLINVAR
  TEF CLINVAR
  TNFRSF13C CLINVAR
  TOB2 CLINVAR
  WBP2NL CLINVAR
  XRCC6 CLINVAR
  ZC3H7B CLINVAR
OMIM 100850 CLINVAR
  104170 CLINVAR
  152690 CLINVAR
  188595 CLINVAR
  600481 CLINVAR
  601304 CLINVAR
  601786 CLINVAR
  602362 CLINVAR
  606269 CLINVAR
  607396 CLINVAR
  608314 CLINVAR
  608797 CLINVAR
  610152 CLINVAR
  610981 CLINVAR
  612156 CLINVAR
  613494 CLINVAR
  614637 CLINVAR
  617329 CLINVAR
  617689 CLINVAR
  617846 CLINVAR
  618206 CLINVAR
  618788 CLINVAR