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

Variant : CV162489 (GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1) Homo sapiens

Symbol: CV162489
Name: GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1
Condition: See cases [RCV000141254]
Clinical Significance: pathogenic
Last Evaluated: 01/14/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCA12   ABI2   ACADL   ADAM23   ALS2   ANKRD44   ANKRD44-AS1   ANKRD44-IT1   AOX1   ATIC   BARD1   BMPR2   BOLL   BZW1   BZW1-AS1   C2CD6   C2orf66   C2orf69   C2orf80   CARF   CASP10   CASP8   CCDC150   CCNYL1   CD28   CDK15   CFLAR   CFLAR-AS1   CLK1   COQ10B   CPO   CPS1   CPS1-IT1   CREB1   CRYGA   CRYGB   CRYGC   CRYGD   CTLA4   CYP20A1   DNAH7   DYTN   EEF1B2   ERBB4   FAM117B   FAM126B   FAM237A   FASTKD2   FLACC1   FN1   FTCDNL1   FZD5   FZD7   GPR1   GPR1-AS   GTF3C3   HECW2   HECW2-AS1   HSPD1   HSPE1   HSPE1-MOB4   ICA1L   ICOS   IDH1   IDH1-AS1   IKZF2   INO80D   KANSL1L   KANSL1L-AS1   KCTD18   KIAA2012   KIAA2012-AS1   KLF7   LANCL1   LANCL1-AS1   LINC00607   LINC01790   LINC01792   LINC01802   LINC01821   LINC01827   LINC01857   LINC01877   LINC01878   LINC01923   LINC01953   MAIP1   MAP2   MARS2   MDH1B   METTL21A   MIR1302-4   MIR2355   MIR3130-1   MIR3130-2   MIR4438   MIR4775   MIR4776-1   MIR4776-2   MIR548F2   MIR7845   MOB4   MPP4   MYL1   MYOSLID   MYOSLID-AS1   NBEAL1   NDUFB3   NDUFS1   NIF3L1   NOP58   NRP2   ORC2   PARD3B   PGAP1   PIKFYVE   PLCL1   PLEKHM3   PPIL3   PTH2R   RAPH1   RFTN2   RPE   SATB2   SATB2-AS1   SF3B1   SGO2   SLC39A10   SNHG31   SNORA105B   SNORA41   SNORA70I   SNORD11   SNORD11B   SNORD51   SNORD70   SNORD70B   SPAG16   SPAG16-DT   SPATS2L   STK17B   STRADB   SUMO1   TMEM237   TRAK2   TYW5   UNC80   VWC2L   VWC2L-IT1   WDR12   ZDBF2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_192938826)_(215705052_?)del
NC_000002.11:g.(?_193803552)_(216569775_?)del
NC_000002.10:g.(?_193511797)_(216278020_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382192,938,826 - 215,705,052CLINVAR
GRCh372193,803,552 - 216,569,775CLINVAR
Build 362193,511,797 - 216,278,020CLINVAR
Cytogenetic Map22q32.3-35CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488781
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

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