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Variant : CV154862 (GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3) Homo sapiens

Symbol: CV154862
Name: GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3
Condition: See cases [RCV000134513]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A4GALT   ACO2   ADM2   ADSL   ALG12   ARFGAP3   ARHGAP8   ARSA   ATP5MGL   ATXN10   BIK   BRD1   C22orf34   CCDC134   CDPF1   CELSR1   CENPM   CERK   CHADL   CHKB   CHKB-CPT1B   CHKB-DT   CPT1B   CRELD2   CSDC2   CYB5R3   CYP2D6   CYP2D7   DENND6B   DESI1   DNAJB7   EFCAB6   EFCAB6-AS1   EP300   EP300-AS1   FAM118A   FBLN1   GRAMD4   GTSE1   GTSE1-DT   HDAC10   IL17REL   KIAA0930   KLHDC7B   L3MBTL2   L3MBTL2-AS1   LINC00207   LINC00229   LINC00634   LINC00898   LINC00899   LINC01310   LINC01315   LINC01589   LINC01639   LINC01644   LINC01656   LMF2   MAPK11   MAPK12   MAPK8IP2   MCAT   MCHR1   MEI1   MIOX   MIR12114   MIR1249   MIR1281   MIR3201   MIR33A   MIR3619   MIR3667   MIR378I   MIR4535   MIR4762   MIR4763   MIR4766   MIR6821   MIR6889   MIRLET7A3   MIRLET7B   MIRLET7BHG   MLC1   MOV10L1   MPPED1   MRTFA   MRTFA-AS1   NAGA   NCAPH2   NDUFA6   NDUFA6-DT   NFAM1   NUP50   NUP50-DT   ODF3B   PACSIN2   PANX2   PARVB   PARVG   PHETA2   PHF21B   PHF5A   PIM3   PKDREJ   PLXNB2   PMM1   PNPLA3   PNPLA5   POLDIP3   POLR3H   PPARA   PPP6R2   PRR34   PRR34-AS1   PRR5   PRR5-ARHGAP8   RANGAP1   RBX1   RIBC2   RNU12   RRP7A   RTL6   SAMM50   SBF1   SCO2   SCUBE1   SELENOO   SEPTIN3   SERHL2   SGSM3   SHANK3   SHISA8   SHISAL1   SLC25A17   SMC1B   SMDT1   SNORD140   SNU13   SREBF2   SREBF2-AS1   ST13   SULT4A1   SYCE3   TAFA5   TBC1D22A   TBC1D22A-AS1   TCF20   TEF   TNFRSF13C   TNRC6B   TOB2   TRABD   TRMU   TRU-TCA2-1   TSPO   TTC38   TTLL1   TTLL12   TTLL8   TUBGCP6   TYMP   UPK3A   WBP2NL   WNT7B   XPNPEP3   XRCC6   ZBED4   ZC3H7B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_40202014)_(50735806_?)dup
NC_000022.10:g.(?_40598018)_(51174234_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382240,202,014 - 50,735,806CLINVAR
GRCh372240,598,018 - 51,174,234CLINVAR
Build 362238,927,964 - 49,521,100CLINVAR
Cytogenetic Map2222q13.1-13.33CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482093
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



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