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Variant : CV613922 (GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)) Homo sapiens

Symbol: CV613922
Name: GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)
Condition: not provided [RCV000767626]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ABCG1   ADARB1   AGPAT3   AIRE   BACE2   C2CD2   CBS   CFAP410   COL18A1   CRYAA   CSTB   DNMT3L   DSCAM   FAM207A   FAM3B   GATD3A   HSF2BP   ICOSLG   ITGB2   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   LINC00315   LINC00334   LRRC3   MX1   MX2   NDUFV3   PDE9A   PDXK   PFKL   PKNOX1   PLAC4   POFUT2   PRDM15   PTTG1IP   PWP2   RIPK4   RRP1   RRP1B   RSPH1   SIK1   SLC37A1   SUMO3   TFF1   TFF2   TFF3   TMPRSS2   TMPRSS3   TRAPPC10   TRPM2   TSPEAR   U2AF1   UBASH3A   UBE2G2   UMODL1   WDR4   ZBTB21  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372141,537,095 - 46,914,745CLINVAR
Cytogenetic Map2121q22.2-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399591
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2019-09-10
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.