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Variant : CV165022 (GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1) Homo sapiens

Symbol: CV165022
Name: GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1
Condition: See cases [RCV000143335]
Clinical Significance: pathogenic
Last Evaluated: 01/14/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AATBC   ABCG1   ADARB1   AGPAT3   AIRE   AP001625.3   C21orf58   CBS   CFAP410   COL18A1   COL18A1-AS1   COL18A1-AS2   COL6A1   COL6A2   CRYAA   CSTB   DIP2A   DIP2A-IT1   DNMT3L   DNMT3L-AS1   ERVH48-1   FAM207A   FRGCA   FTCD   FTCD-AS1   GATD3A   H2BS1   HSF2BP   ICOSLG   ITGB2   ITGB2-AS1   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LINC00163   LINC00205   LINC00313   LINC00315   LINC00316   LINC00319   LINC00322   LINC00334   LINC01424   LINC01547   LINC01668   LINC01671   LINC01678   LINC01679   LINC01694   LINC02575   LRRC3   LRRC3-DT   LSS   MCM3AP   MCM3AP-AS1   MIR5692B   MIR6070   MIR6815   NDUFV3   PCBP3   PCBP3-AS1   PCNT   PDE9A   PDE9A-AS1   PDXK   PFKL   PICSAR   PKNOX1   POFUT2   PRMT2   PTTG1IP   PWP2   RRP1   RRP1B   RSPH1   S100B   SIK1   SLC19A1   SLC37A1   SNORD159   SPATC1L   SUMO3   TFF1   TFF2   TFF3   TMPRSS3   TRAPPC10   TRPM2   TRPM2-AS   TSPEAR   TSPEAR-AS1   TSPEAR-AS2   U2AF1   UBASH3A   UBE2G2   UMODL1   WDR4   YBEY  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_42129699)_(46671060_?)del
NC_000021.8:g.(?_43549809)_(48090972_?)del
NC_000021.7:g.(?_42422878)_(46915400_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382142,129,699 - 46,671,060CLINVAR
GRCh372143,549,809 - 48,090,972CLINVAR
Build 362142,422,878 - 46,915,400CLINVAR
Cytogenetic Map2121q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490933
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.