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Variant : CV165102 (GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1) Homo sapiens

Symbol: CV165102
Name: GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1
Condition: See cases [RCV000143415]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AP1B1   ASCC2   C22orf31   CABP7   CASTOR1   CCDC117   CCDC157   CHEK2   CRYBA4   CRYBB1   DRG1   DUSP18   EIF4ENIF1   EMID1   EWSR1   GAL3ST1   GAS2L1   HORMAD2   HORMAD2-AS1   HPS4   HSCB   INPP5J   KREMEN1   LIF   LIF-AS1   LIMK2   LINC01422   LINC01521   LINC01638   LINC02554   MIAT   MIATNB   MIR3199-1   MIR3199-2   MIR3200   MIR3928   MIR548J   MIR5739   MIR6818   MN1   MORC2   MORC2-AS1   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   OSBP2   OSM   PATZ1   PES1   PIK3IP1   PIK3IP1-AS1   PITPNB   PLA2G3   RASL10A   RFPL1   RFPL1S   RHBDD3   RNF185   RNF215   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SELENOM   SF3A1   SLC35E4   SMTN   SNORD125   SRRD   TBC1D10A   TCN2   TFIP11   THOC5   TPST2   TTC28   TTC28-AS1   TUG1   UQCR10   XBP1   ZMAT5   ZNRF3   ZNRF3-AS1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_26451042)_(31451926_?)del
Human AssemblyChrPosition (strand)Source
GRCh382226,451,042 - 31,451,926CLINVAR
GRCh372226,847,008 - 31,847,912CLINVAR
Build 362225,177,008 - 30,177,912CLINVAR
Cytogenetic Map2222q12.1-12.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9491013
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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