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Variant : CV674920 (GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1) Homo sapiens

Symbol: CV674920
Name: GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1
Condition: not provided [RCV000848027]
Clinical Significance: pathogenic
Last Evaluated: 06/29/2017
Review Status: no assertion criteria provided
Related Genes: ACSS3   ALX1   ATP2B1   BTG1   C12orf29   C12orf50   CCDC59   CCER1   CEP290   CLLU1   CLLU1-AS1   CRADD   DCN   DUSP6   EEA1   EPYC   GALNT4   KERA   KITLG   LIN7A   LINC01619   LRRIQ1   LUM   METTL25   MGAT4C   MRPL42   MYF5   MYF6   NAV3   NTS   NUDT4   OTOGL   PAWR   PLEKHG7   POC1B   POC1B-GALNT4   PPFIA2   PPP1R12A   PTPRQ   RASSF9   SLC6A15   SOCS2   SYT1   TMTC2   TMTC3   TSPAN19   UBE2N  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371277,737,623 - 94,330,526CLINVAR
Cytogenetic Map1212q21.2-22CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14979597
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


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