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Variant : CV437440 (GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1) Homo sapiens

Symbol: CV437440
Name: GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1
Condition: See cases [RCV000510798]
Clinical Significance: pathogenic
Last Evaluated: 11/12/2013
Review Status: no assertion criteria provided
Related Genes: ABCG1   ADARB1   AGPAT3   AIRE   B3GALT5   BACE2   BRWD1   C21orf58   C2CD2   CBS   CFAP410   CLDN14   COL18A1   COL6A1   COL6A2   CRYAA   CSTB   DIP2A   DNMT3L   DSCAM   DSCR4   DSCR8   DYRK1A   ERG   ETS2   FAM207A   FAM3B   FTCD   GATD3A   GET1   HLCS   HMGN1   HSF2BP   ICOSLG   IGSF5   ITGB2   KCNJ15   KCNJ6   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   LCA5L   LINC00114   LINC00163   LINC00315   LINC00334   LRRC3   LSS   MCM3AP   MX1   MX2   NDUFV3   PCBP3   PCNT   PCP4   PDE9A   PDXK   PFKL   PIGP   PKNOX1   PLAC4   POFUT2   PRDM15   PRMT2   PSMG1   PTTG1IP   PWP2   RIPK4   RIPPLY3   RRP1   RRP1B   RSPH1   S100B   SH3BGR   SIK1   SIM2   SLC19A1   SLC37A1   SPATC1L   SUMO3   TFF1   TFF2   TFF3   TMPRSS2   TMPRSS3   TRAPPC10   TRPM2   TSPEAR   TTC3   U2AF1   UBASH3A   UBE2G2   UMODL1   VPS26C   WDR4   YBEY   ZBTB21  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372137,914,123 - 48,097,372CLINVAR
Cytogenetic Map2121q22.13-22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13443776
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-09-22
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.