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Variant : CV72186 (GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1) Homo sapiens

Symbol: CV72186
Name: GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1
Condition: See cases [RCV000051320]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC007622.2   AC011313.1   AC068643.2   AC079385.1   AC079385.2   ALDH1L2   ANO4   APPL2   ARL1   ASCL1   ASCL4   BTBD11   C12orf42   C12orf45   C12orf73   C12orf75   CASC18   CHPT1   CHST11   CKAP4   CMKLR1   CRY1   DRAM1   EID3   FICD   GLT8D2   GNPTAB   HCFC2   HSP90B1   IGF1   ISCU   LINC00485   LINC01498   LINC02385   LINC02401   MIR3652   MIR3922   MTERF2   MYBPC1   NFYB   NT5DC3   NUAK1   NUP37   PAH   PARPBP   PMCH   POLR3B   PRDM4   PWP1   RFX4   RIC8B   SART3   SLC41A2   SLC5A8   SPIC   STAB2   SYCP3   TCP11L2   TDG   TMEM263   TXNRD1   UTP20   WASHC3   WASHC4   WSCD2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_100670616)_(108583607_?)del
NC_000012.11:g.(?_101064394)_(108977383_?)del
NC_000012.10:g.(?_99588525)_(107501512_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3812100,670,616 - 108,583,607CLINVAR
GRCh3712101,064,394 - 108,977,383CLINVAR
Build 361299,588,525 - 107,501,512CLINVAR
Cytogenetic Map1212q23.1-23.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618345
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-23
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.