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Variant : CV553863 (GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3) Homo sapiens

Symbol: CV553863
Name: GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3
Condition: not provided [RCV000682168]
Clinical Significance: pathogenic
Last Evaluated: 03/19/2018
Review Status: no assertion criteria provided
Related Genes: ACOXL   ACTR1B   ADRA2B   AFF3   ANAPC1   ANKRD23   ANKRD36   ANKRD36B   ANKRD36C   ANKRD39   ARID5A   ASTL   BCL2L11   BUB1   C2orf15   C2orf49   CCDC138   CHCHD5   CHST10   CIAO1   CKAP2L   CNGA3   CNNM3   CNNM4   CNOT11   COA5   COX5B   CRACDL   CREG2   DUSP2   ECRG4   EDAR   EIF5B   FAHD2B   FAM178B   FBLN7   FER1L5   FHL2   GCC2   GPAT2   GPR45   IL18R1   IL18RAP   IL1A   IL1B   IL1F10   IL1R1   IL1R2   IL1RL1   IL1RL2   IL1RN   IL36A   IL36B   IL36G   IL36RN   IL37   INPP4A   ITPRIPL1   KANSL3   LIMS1   LIMS3   LIMS4   LIPT1   LMAN2L   LONRF2   LYG1   LYG2   MALL   MAP4K4   MERTK   MFSD9   MGAT4A   MITD1   MRPL30   MRPS9   NCAPH   NCK2   NMS   NPAS2   NPHP1   NT5DC4   PAX8   PDCL3   POLR1B   POU3F3   PSD4   RANBP2   REV1   RFX8   RGPD3   RGPD4   RGPD5   RGPD6   RGPD8   RNF149   RPL31   SEMA4C   SEPTIN10   SLC20A1   SLC5A7   SLC9A2   SLC9A4   SNRNP200   SOWAHC   ST6GAL2   STARD7   SULT1C2   SULT1C3   SULT1C4   TBC1D8   TGFBRAP1   TMEM127   TMEM131   TMEM182   TMEM87B   TSGA10   TTL   TXNDC9   UNC50   UXS1   VWA3B   ZAP70   ZC3H6   ZC3H8  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37296,353,030 - 114,045,463CLINVAR
Cytogenetic Map22q11.1-13CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13794945
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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