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Variant : CV625922 (GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1) Homo sapiens

Symbol: CV625922
Name: GRCh37/hg19 2q37.3(chr2:239894072-243048760)x1
Condition: See cases [RCV000790569]
Clinical Significance: pathogenic
Last Evaluated: 07/20/2018
Review Status: criteria provided, single submitter
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   PDCD1   PPP1R7   PRR21   RNPEPL1   RTP5   SEPTIN2   SNED1   STK25   THAP4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372239,894,072 - 243,048,760CLINVAR
Cytogenetic Map22q37.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14697826
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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