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Variant : CV164287 (GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1) Homo sapiens

Symbol: CV164287
Name: GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1
Condition: See cases [RCV000142600]
Clinical Significance: pathogenic
Last Evaluated: 10/20/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AATBC   ADARB1   AGPAT3   AIRE   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   LINC01678   LINC01679   LINC01694   LINC02575   LRRC3   LRRC3-DT   LSS   MCM3AP   MCM3AP-AS1   MIR5692B   MIR6070   MIR6815   NDUFV3   PCBP3   PCBP3-AS1   PCNT   PDXK   PFKL   PICSAR   PKNOX1   POFUT2   PRMT2   PTTG1IP   PWP2   RRP1   RRP1B   S100B   SIK1   SLC19A1   SNORD159   SPATC1L   SUMO3   TRAPPC10   TRPM2   TRPM2-AS   TSPEAR   TSPEAR-AS1   TSPEAR-AS2   U2AF1   UBE2G2   YBEY  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_42913213)_(46670405_?)del
NC_000021.8:g.(?_44333323)_(48090317_?)del
NC_000021.7:g.(?_43206392)_(46914745_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382142,913,213 - 46,670,405CLINVAR
GRCh372144,333,323 - 48,090,317CLINVAR
Build 362143,206,392 - 46,914,745CLINVAR
Cytogenetic Map2121q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490198
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.