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Variant : CV158188 (GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3) Homo sapiens

Symbol: CV158188
Name: GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3
Condition: See cases [RCV000137511]
Clinical Significance: likely pathogenic
Last Evaluated: 02/18/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABLIM1   ADRB1   AFAP1L2   AL137025.1   AL158212.3   ATRNL1   BAG3   C10orf82   CACUL1   CASC2   CASP7   CCDC172   CCDC186   DCLRE1A   DENND10   EIF3A   EMX2   EMX2OS   ENO4   FAM160B1   FAM204A   GFRA1   GRK5   GRK5-IT1   HABP2   HSPA12A   INPP5F   KCNK18   LINC00867   LINC01561   LINC02626   LINC02674   MCMBP   MIR2110   MIR3663   MIR3663HG   MIR4483   MIR4681   MIR4682   MIR9851   NANOS1   NHLRC2   NRAP   PDZD8   PLEKHS1   PLPP4   PNLIP   PNLIPRP1   PNLIPRP2   PNLIPRP3   PRDX3   PRLHR   RAB11FIP2   RGS10   SEC23IP   SFXN4   SHTN1   SLC18A2   SNORA19   SNORA87   SNORD158   TCF7L2   TDRD1   TIAL1   TRUB1   VAX1   VTI1A   VWA2   WDR11   WDR11-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_112701186)_(120970617_?)dup
NC_000010.10:g.(?_114460945)_(122730130_?)dup
NC_000010.9:g.(?_114450935)_(122720120_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810112,701,186 - 120,970,617CLINVAR
GRCh3710114,460,945 - 122,730,130CLINVAR
Build 3610114,450,935 - 122,720,120CLINVAR
Cytogenetic Map1010q25.2-26.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485066
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.