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

Variant : CV156646 (GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3) Homo sapiens

Symbol: CV156646
Name: GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3
Condition: See cases [RCV000136124]
Clinical Significance: benign
Last Evaluated: 10/01/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADM2   ALG12   ARHGAP8   ARSA   ATXN10   BRD1   C22orf34   CDPF1   CELSR1   CERK   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   DENND6B   FAM118A   FBLN1   GRAMD4   GTSE1   GTSE1-DT   HDAC10   IL17REL   KIAA0930   KLHDC7B   LINC00207   LINC00229   LINC00898   LINC00899   LINC01310   LINC01589   LINC01644   LINC01656   LMF2   MAPK11   MAPK12   MAPK8IP2   MIOX   MIR12114   MIR1249   MIR3201   MIR3619   MIR3667   MIR4535   MIR4762   MIR4763   MIR6821   MIRLET7A3   MIRLET7B   MIRLET7BHG   MLC1   MOV10L1   NCAPH2   NUP50   NUP50-DT   ODF3B   PANX2   PARVB   PARVG   PHF21B   PIM3   PKDREJ   PLXNB2   PPARA   PPP6R2   PRR34   PRR34-AS1   PRR5   PRR5-ARHGAP8   RIBC2   RTL6   SAMM50   SBF1   SCO2   SELENOO   SHANK3   SHISAL1   SMC1B   SYCE3   TAFA5   TBC1D22A   TBC1D22A-AS1   TRABD   TRMU   TRU-TCA2-1   TTC38   TTLL8   TUBGCP6   TYMP   UPK3A   WNT7B   ZBED4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_43992879)_(50683114_?)dup
NC_000022.10:g.(?_44388759)_(51121542_?)dup
NC_000022.9:g.(?_42720092)_(49468408_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382243,992,879 - 50,683,114CLINVAR
GRCh372244,388,759 - 51,121,542CLINVAR
Build 362242,720,092 - 49,468,408CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483686
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



NHLBI Logo

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