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Variant : CV382583 (GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)) Homo sapiens

Symbol: CV382583
Name: GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)
Condition: See cases [RCV000449270]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: no assertion criteria provided
Related Genes: ACTR1B   ADRA2B   AFF3   ANKRD23   ANKRD36   ANKRD36B   ANKRD36C   ANKRD39   ARID5A   ASTL   C2orf15   C2orf49   CHST10   CIAO1   CNGA3   CNNM3   CNNM4   CNOT11   COA5   COX5B   CREG2   DUSP2   ECRG4   EIF5B   FAHD2A   FAHD2B   FAM178B   FER1L5   FHL2   GPAT2   GPR45   IL18R1   IL18RAP   IL1R1   IL1R2   IL1RL1   IL1RL2   INPP4A   ITPRIPL1   KANSL3   KCNIP3   KIAA1211L   LIPT1   LMAN2L   LONRF2   LYG1   LYG2   MAL   MAP4K4   MFSD9   MGAT4A   MITD1   MRPL30   MRPS5   MRPS9   NCAPH   NCK2   NMS   NPAS2   PDCL3   POU3F3   PROM2   REV1   RFX8   RGPD3   RGPD4   RNF149   RPL31   SEMA4C   SLC9A2   SLC9A4   SNRNP200   ST6GAL2   STARD7   TBC1D8   TEKT4   TGFBRAP1   TMEM127   TMEM131   TMEM182   TRIM43   TRIM43B   TSGA10   TXNDC9   UNC50   UXS1   VWA3B   ZAP70   ZNF2   ZNF514  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37295,529,039 - 108,518,266CLINVAR
Cytogenetic Map22q11.1-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853966
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-14
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.