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Variant : CV164414 (GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3) Homo sapiens

Symbol: CV164414
Name: GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3
Condition: See cases [RCV000142727]
Clinical Significance: pathogenic
Last Evaluated: 12/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD2   ACAN   ANPEP   AP3S2   ARPIN   ARPIN-AP3S2   ARRDC4   BLM   C15orf32   CHD2   CIB1   CRTC3   CRTC3-AS1   FAM174B   FANCI   FES   FURIN   GDPGP1   HAPLN3   HDDC3   IDH2   IDH2-DT   IQGAP1   KIF7   LINC00923   LINC00924   LINC00928   LINC00930   LINC01197   LINC01578   LINC01579   LINC01580   LINC01581   LINC01582   LINC01585   LINC02207   LINC02251   LINC02254   LINC02351   MAN2A2   MCTP2   MESP1   MESP2   MFGE8   MIR1469   MIR3174   MIR3175   MIR5009   MIR5094   MIR6766   MIR9-3   MIR9-3HG   NGRN   NR2F2   NR2F2-AS1   PEX11A   PIRC76   PLIN1   POLG   PRC1   PRC1-AS1   RCCD1   RGMA   RHCG   RLBP1   SEMA4B   SLCO3A1   SPATA8   SPATA8-AS1   ST8SIA2   SV2B   TICRR   TRR-TCG1-1   UNC45A   VPS33B   VPS33B-DT   WDR93   ZNF710   ZNF710-AS1   ZNF774  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.10:g.(?_88676575)_(98364743_?)dup
NC_000015.9:g.(?_89219806)_(98907972_?)dup
NC_000015.8:g.(?_87020810)_(96725495_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381588,676,575 - 98,364,743CLINVAR
GRCh371589,219,806 - 98,907,972CLINVAR
Build 361587,020,810 - 96,725,495CLINVAR
Cytogenetic Map1515q26.1-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490325
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-08-06
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.