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

Variant : CV72268 (GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1) Homo sapiens

Symbol: CV72268
Name: GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1
Condition: See cases [RCV000051411]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC000036.1   ACR   ADM2   AL117329.1   ALG12   ARSA   ATXN10   BRD1   C22orf34   CDPF1   CELSR1   CERK   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   GRAMD4   GTSE1   GTSE1-DT   HDAC10   IL17REL   KLHDC7B   KLHDC7B-DT   LINC00898   LINC00899   LINC01310   LINC01644   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIR12114   MIR3201   MIR3619   MIR3667   MIR4535   MIR4762   MIR4763   MIR6821   MIRLET7A3   MIRLET7B   MIRLET7BHG   MLC1   MOV10L1   NCAPH2   ODF3B   PANX2   PIM3   PKDREJ   PLXNB2   PPARA   PPP6R2   PRR34   PRR34-AS1   SBF1   SCO2   SELENOO   SHANK3   SYCE3   TAFA5   TBC1D22A   TBC1D22A-AS1   TRABD   TRMU   TTC38   TTLL8   TUBGCP6   TYMP   WNT7B   Z82186.1   Z84468.1   ZBED4  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_45648256)_(50739836_?)del
NC_000022.10:g.(?_46044136)_(51178264_?)del
NC_000022.9:g.(?_44422800)_(49525130_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382245,648,256 - 50,739,836CLINVAR
GRCh372246,044,136 - 51,178,264CLINVAR
Build 362244,422,800 - 49,525,130CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618428
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE



NHLBI Logo

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