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Variant : CV164134 (GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3) Homo sapiens

Symbol: CV164134
Name: GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3
Condition: See cases [RCV000142447]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC007622.2   AC011313.1   AC012085.2   AC012464.1   AC068643.2   AC079385.1   AC079385.2   AC090001.1   AC117377.1   ACACB   ACTR6   ALDH1L2   ALKBH2   AMDHD1   ANKS1B   ANO4   APAF1   APPL2   ARL1   ASCL1   ASCL4   BTBD11   BTG1   C12orf42   C12orf45   C12orf73   C12orf75   CASC18   CCDC38   CDK17   CEP83   CEP83-DT   CFAP54   CHPT1   CHST11   CKAP4   CLLU1   CLLU1-AS1   CMKLR1   CORO1C   CRADD   CRY1   DAO   DCN   DEPDC4   DRAM1   EEA1   EID3   ELK3   FAM71C   FGD6   FICD   GAS2L3   GLT8D2   GNPTAB   HAL   HCFC2   HSP90B1   IGF1   IKBIP   ISCU   KERA   LINC00485   LINC01498   LINC01619   LINC02385   LINC02397   LINC02401   LINC02404   LINC02409   LINC02410   LINC02412   LINC02413   LINC02453   LINC02823   LTA4H   LUM   METAP2   MIR1251   MIR135A2   MIR1827   MIR331   MIR3652   MIR3685   MIR3922   MIR4303   MIR4495   MIR4496   MIR492   MIR5700   MIR619   MIR7844   MRPL42   MTERF2   MYBPC1   NDUFA12   NEDD1   NFYB   NR1H4   NR2C1   NT5DC3   NTN4   NUAK1   NUDT4   NUP37   PAH   PARPBP   PLEKHG7   PLXNC1   PMCH   POLR3B   PRDM4   PWP1   RFX4   RIC8B   RMST   SART3   SCYL2   SELPLG   SLC17A8   SLC25A3   SLC41A2   SLC5A8   SNORA53   SNRPF   SOCS2   SOCS2-AS1   SPIC   SSH1   STAB2   SVOP   SYCP3   TCP11L2   TDG   TMCC3   TMEM119   TMEM263   TMPO   TMPO-AS1   TRD-GTC1-1   TRD-GTC2-8   TRW-CCA4-1   TXNRD1   UBE2N   UHRF1BP1L   UNG   USP30   USP30-AS1   USP44   UTP20   VEZT   WASHC3   WASHC4   WSCD2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000012.12:g.(?_91044318)_(109133210_?)dup
NC_000012.11:g.(?_91438095)_(109571015_?)dup
NC_000012.10:g.(?_89962226)_(108055398_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381291,044,318 - 109,133,210CLINVAR
GRCh371291,438,095 - 109,571,015CLINVAR
Build 361289,962,226 - 108,055,398CLINVAR
Cytogenetic Map1212q21.33-24.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490045
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
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.