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Variant : CV383983 (GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3) Homo sapiens

Symbol: CV383983
Name: GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)x3
Condition: See cases [RCV000445929]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACTR6   ALDH1L2   ANO4   APPL2   ARL1   ASCL1   C12orf42   C12orf45   C12orf73   C12orf75   CHPT1   CHST11   DEPDC4   DRAM1   EID3   GAS2L3   GLT8D2   GNPTAB   HCFC2   HSP90B1   IGF1   MYBPC1   NFYB   NR1H4   NT5DC3   NUP37   PAH   PARPBP   PMCH   SCYL2   SLC17A8   SLC41A2   SLC5A8   SPIC   STAB2   SYCP3   TDG   TXNRD1   UTP20   WASHC3   WASHC4  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3712100,580,198 - 105,804,075CLINVAR
Cytogenetic Map1212q23.1-23.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12850659
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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