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Variant : CV155766 (GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1) Homo sapiens

Symbol: CV155766
Name: GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1
Condition: See cases [RCV000135341]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABI2   ALS2   ANKRD44   ANKRD44-AS1   ANKRD44-IT1   AOX1   BMPR2   BOLL   BZW1   BZW1-AS1   C2CD6   C2orf66   C2orf69   CARF   CASP10   CASP8   CCDC150   CD28   CDK15   CFLAR   CFLAR-AS1   CLK1   COQ10B   CTLA4   CYP20A1   DNAH7   FAM117B   FAM126B   FLACC1   FTCDNL1   FZD7   GTF3C3   HECW2   HECW2-AS1   HSPD1   HSPE1   HSPE1-MOB4   ICA1L   ICOS   KCTD18   KIAA2012   KIAA2012-AS1   LINC01792   LINC01877   LINC01923   MAIP1   MARS2   MOB4   MPP4   NBEAL1   NDUFB3   NIF3L1   NOP58   ORC2   PGAP1   PLCL1   PPIL3   RAPH1   RFTN2   SATB2   SATB2-AS1   SF3B1   SGO2   SLC39A10   SNORA105B   SNORD11   SNORD11B   SNORD70   SNORD70B   SPATS2L   STK17B   STRADB   SUMO1   TMEM237   TRAK2   TYW5   WDR12  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_195660594)_(203969488_?)del
Human AssemblyChrPosition (strand)Source
GRCh382195,660,594 - 203,969,488CLINVAR
GRCh372196,525,318 - 204,834,211CLINVAR
Build 362196,233,563 - 204,542,456CLINVAR
Cytogenetic Map22q32.3-33.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9482914
Created: 2014-09-09
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.