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Variant : CV381359 (GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3) Homo sapiens

Symbol: CV381359
Name: GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3
Condition: See cases [RCV000447397]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ALK   ARHGEF33   ATL2   BABAM2   BIRC6   C2orf91   CAPN13   CAPN14   CDC42EP3   CDKL4   CEBPZ   CLIP4   COX7A2L   CRIM1   CYP1B1   DHX57   DPY30   EHD3   EIF2AK2   EML4   FAM98A   FEZ2   FOSL2   GALM   GALNT14   GEMIN6   GPATCH11   HAAO   HEATR5B   HNRNPLL   KCNG3   LBH   LCLAT1   LTBP1   MAP4K3   MEMO1   MORN2   MTA3   NDUFAF7   NLRC4   OXER1   PCARE   PKDCC   PLB1   PPP1CB   PRKD3   QPCT   RASGRP3   RBKS   RMDN2   SLC30A6   SLC8A1   SOS1   SOS1-IT1   SPAST   SPDYA   SRD5A2   SRSF7   STRN   SULT6B1   THADA   THUMPD2   TMEM178A   TOGARAM2   TRMT61B   TTC27   VIT   WDR43   XDH   YIPF4   YPEL5   ZFP36L2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37228,069,882 - 43,543,420CLINVAR
Cytogenetic Map22p23.2-21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852114
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
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.