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Variant : CV248080 (GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1) Homo sapiens

Symbol: CV248080
Name: GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1
Condition: See cases [RCV000239886]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABHD6   ACOX2   ACTR8   ALAS1   APPL1   ARF4   ARHGEF3   ASB14   BAP1   C3orf67   CACNA1D   CACNA2D3   CCDC66   CHDH   DCP1A   DENND6A   DNAH1   DNAH12   DNASE1L3   DUSP7   ERC2   ESRG   FAM107A   FAM3D   FLNB   GLT8D1   GLYCTK   GNL3   HESX1   IL17RB   IL17RD   ITIH1   ITIH3   ITIH4   KCTD6   LRTM1   MIRLET7G   MUSTN1   NEK4   NISCH   NT5DC2   PBRM1   PDE12   PDHB   PHF7   POC1A   PPM1M   PRKCD   PXK   RFT1   RPP14   SELENOK   SEMA3G   SFMBT1   SLMAP   SMIM4   SPATA12   SPCS1   STAB1   STIMATE   STIMATE-MUSTN1   TASOR   TKT   TLR9   TNNC1   TWF2   WDR82   WNT5A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37352,086,599 - 59,689,209CLINVAR
Cytogenetic Map33p21.2-14.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541377
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-11-05
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.