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Variant : CV382297 (GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1) Homo sapiens

Symbol: CV382297
Name: GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1
Condition: See cases [RCV000446034]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACKR3   AGAP1   AGXT   ANKMY1   ANO7   AQP12A   AQP12B   ARL4C   ASB1   ASB18   ATG16L1   ATG4B   BOK   CAPN10   COL6A3   COPS8   COPS9   D2HGDH   DGKD   DNAJB3   DTYMK   DUSP28   ERFE   ESPNL   FARP2   GAL3ST2   GBX2   GPC1   GPR35   HDAC4   HDLBP   HES6   HJURP   ILKAP   ING5   IQCA1   KIF1A   KLHL30   LRRFIP1   MAB21L4   MIR149   MLPH   MROH2A   MTERF4   NDUFA10   NEU2   NEU4   NGEF   OR6B2   OR6B3   OTOS   PASK   PDCD1   PER2   PPP1R7   PRLH   PRR21   RAB17   RAMP1   RBM44   RNPEPL1   RTP5   SAG   SCLY   SEPTIN2   SH3BP4   SNED1   SPP2   STK25   THAP4   TRAF3IP1   TRPM8   TWIST2   UBE2F   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372233,784,243 - 243,040,217CLINVAR
Cytogenetic Map22q37.1-37.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12850763
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-02-11
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.