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Variant : CV73742 (GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3) Homo sapiens

Symbol: CV73742
Name: GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3
Condition: See cases [RCV000052947]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC013271.1   AFF3   C2orf15   C2orf49   C2orf49-DT   C2orf92   CCDC138   CD8B2   CHST10   CNGA3   CNOT11   COA5   CRACDL   CREG2   ECRG4   EDAR   EIF5B   FHL2   FRA2A   GACAT1   GCC2   GCC2-AS1   GPR45   IL18R1   IL18RAP   IL1R1   IL1R2   IL1RL1   IL1RL2   INPP4A   LIMS1   LIMS1-AS1   LIMS3   LINC01102   LINC01103   LINC01104   LINC01114   LINC01123   LINC01127   LINC01159   LINC01593   LINC01594   LINC01789   LINC01796   LINC01831   LINC01849   LINC01885   LINC01886   LINC01918   LINC01935   LINC02611   LIPT1   LOC100287010   LOC107305683   LOC107305684   LOC107305685   LOC107305686   LOC110120670   LOC110120750   LOC110120793   LOC110120814   LOC110120821   LOC110120987   LOC110120992   LOC110121001   LOC110121005   LOC110121017   LOC110121029   LOC110121047   LOC110121130   LOC110121132   LOC110121135   LOC110121140   LOC110121141   LOC110121142   LOC110121149   LOC110121226   LOC111721715   LOC111828510   LOC112695110   LOC112695111   LOC112695112   LOC112695113   LOC112695114   LOC112695115   LOC114004366   LOC114827847   LOC285000   LONRF2   LYG1   LYG2   MALL   MAP4K4   MFSD9   MGAT4A   MIR4265   MIR4266   MIR4267   MIR4436B1   MIR4772   MIR5696   MITD1   MRPL30   MRPS9   MRPS9-AS1   MRPS9-AS2   NCK2   NMS   NPAS2   NPAS2-AS1   NPHP1   PANTR1   PDCL3   POU3F3   RANBP2   REV1   RFX8   RGPD3   RGPD4   RGPD4-AS1   RGPD5   RNF149   RPL31   SEPTIN10   SH3RF3   SH3RF3-AS1   SLC5A7   SLC9A2   SLC9A4   SNORD89   SOWAHC   ST6GAL2   SULT1C2   SULT1C3   SULT1C4   TBC1D8   TBC1D8-AS1   TGFBRAP1   TMEM131   TMEM182   TSGA10   TXNDC9   UNC50   UXS1   VWA3B   ZAP70  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_97672522)_(110211318_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38297,672,522 - 110,211,318CLINVAR
GRCh37298,288,985 - 110,968,895CLINVAR
Build 36297,655,417 - 110,326,184CLINVAR
Cytogenetic Map22q11.2-13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619916
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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