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Variant : CV592627 (GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1) Homo sapiens

Symbol: CV592627
Name: GRCh37/hg19 12q15-21.33(chr12:69608090-89629345)x1
Condition: not provided [RCV000737927]
Clinical Significance: pathogenic
Last Evaluated: 10/24/2011
Review Status: no assertion criteria provided
Related Genes: ACSS3   ALX1   ATXN7L3B   BBS10   BEST3   C12orf29   C12orf50   CAPS2   CCDC59   CCT2   CEP290   CNOT2   CPSF6   CSRP2   E2F7   FRS2   GLIPR1   GLIPR1L1   GLIPR1L2   KCNC2   KCNMB4   KITLG   KRR1   LGR5   LIN7A   LRRC10   LRRIQ1   LYZ   METTL25   MGAT4C   MYF5   MYF6   MYRFL   NAP1L1   NAV3   NTS   OSBPL8   OTOGL   PAWR   PHLDA1   PPFIA2   PPP1R12A   PTPRB   PTPRQ   PTPRR   RAB21   RAB3IP   RASSF9   SLC6A15   SYT1   TBC1D15   THAP2   TMEM19   TMTC2   TMTC3   TPH2   TRHDE   TSPAN19   TSPAN8   YEATS4   ZDHHC17   ZFC3H1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371269,608,090 - 89,629,345CLINVAR
Cytogenetic Map1212q15-21.33CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14353302
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-05-26
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.