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Variant : CV553843 (GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1) Homo sapiens

Symbol: CV553843
Name: GRCh37/hg19 2q37.3(chr2:239884390-242783384)x1
Condition: not provided [RCV000682148]
Clinical Significance: pathogenic
Last Evaluated: 05/31/2018
Review Status: no assertion criteria provided
Related Genes: AGXT   ANKMY1   ANO7   AQP12A   AQP12B   ATG4B   BOK   CAPN10   COPS9   D2HGDH   DTYMK   DUSP28   FARP2   GAL3ST2   GPC1   GPR35   HDAC4   HDLBP   ING5   KIF1A   MAB21L4   MIR149   MTERF4   NDUFA10   NEU4   OR6B2   OR6B3   OTOS   PASK   PPP1R7   PRR21   RNPEPL1   SEPTIN2   SNED1   STK25   THAP4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372239,884,390 - 242,783,384CLINVAR
Cytogenetic Map22q37.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13794924
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.