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Variant : CV159876 (GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3) Homo sapiens

Symbol: CV159876
Name: GRCh38/hg38 13q32.1-34(chr13:95744855-110863818)x3
Condition: See cases [RCV000139021]
Clinical Significance: pathogenic
Last Evaluated: 07/25/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD13   ARGLU1   BIVM   BIVM-ERCC5   CARS2   CCDC168   CLYBL   CLYBL-AS1   CLYBL-AS2   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   DAOA   DAOA-AS1   DNAJC3   DOCK9   DOCK9-AS1   DOCK9-DT   EFNB2   ERCC5   FAM155A   FAM155A-IT1   FARP1   FGF14   FGF14-AS1   FGF14-AS2   FGF14-IT1   GGACT   GPR18   GPR183   HS6ST3   ING1   IPO5   IRS2   ITGBL1   LIG4   LINC00343   LINC00359   LINC00370   LINC00396   LINC00399   LINC00411   LINC00443   LINC00449   LINC00456   LINC00460   LINC00551   LINC00554   LINC00567   LINC00676   LINC01039   LINC01232   LINC01309   MBNL2   METTL21C   MIR1267   MIR2681   MIR3170   MIR4306   MIR4501   MIR4705   MIR623   MIR8073   MYO16   MYO16-AS1   NALCN   NALCN-AS1   NAXD   OXGR1   PCCA   PCCA-AS1   PCCA-DT   POGLUT2   RAB20   RAP2A   RNF113B   SLC10A2   SLC15A1   SNORD31B   STK24   STK24-AS1   TEX30   TM9SF2   TMTC4   TNFSF13B   TPP2   UBAC2   UBAC2-AS1   UGGT2   ZIC2   ZIC5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_95744855)_(110863818_?)dup
NC_000013.10:g.(?_96397109)_(111516165_?)dup
NC_000013.9:g.(?_95195110)_(110314166_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381395,744,855 - 110,863,818CLINVAR
GRCh371396,397,109 - 111,516,165CLINVAR
Build 361395,195,110 - 110,314,166CLINVAR
Cytogenetic Map1313q32.1-34CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486553
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
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.