Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV71924 (GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1) Homo sapiens

Symbol: CV71924
Name: GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1
Condition: Edema [RCV000051014]|See cases [RCV000051014]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACP2   AGBL2   ARFGAP2   C11orf49   C1QTNF4   CELF1   CKAP5   DDB2   FAM180B   FNBP4   KBTBD4   LRP4   LRP4-AS1   MADD   MADD-AS1   MIR3161   MIR4487   MIR6745   MTCH2   MYBPC3   NDUFS3   NR1H3   NUP160   OR4A47   OR4B1   OR4C3   OR4C5   OR4S1   OR4X1   OR4X2   PACSIN3   PSMC3   PTPMT1   PTPRJ   RAPSN   SLC39A13   SPI1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_46840454)_(48643003_?)del
Human AssemblyChrPosition (strand)Source
GRCh381146,840,454 - 48,643,003CLINVAR
GRCh371146,862,005 - 48,664,555CLINVAR
Build 361146,818,581 - 48,621,131CLINVAR
Cytogenetic Map1111p11.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8618065
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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