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Variant : CV437184 (GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3) Homo sapiens

Symbol: CV437184
Name: GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3
Condition: See cases [RCV000512571]
Clinical Significance: pathogenic
Last Evaluated: 03/16/2015
Review Status: no assertion criteria provided
Related Genes: ABCC4   ACOD1   ATXN8OS   BORA   CLDN10   CLN5   COMMD6   DACH1   DCT   DIAPH3   DIS3   DNAJC3   DZIP1   EDNRB   FBXL3   GPC5   GPC6   GPR180   KCTD12   KLF12   KLF5   KLHL1   LINC00402   LINC00558   LMO7   LMO7DN   MIR17   MIR17HG   MIR18A   MIR19A   MIR19B1   MIR20A   MIR4500HG   MIR92A1   MYCBP2   MZT1   NDFIP2   OBI1   PCDH17   PCDH20   PCDH9   PIBF1   POU4F1   PRR20A   PRR20B   PRR20C   PRR20D   PRR20E   RBM26   SCEL   SLAIN1   SLITRK1   SLITRK5   SLITRK6   SOX21   SPRY2   TBC1D4   TDRD3   TGDS   UCHL3   UGGT2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371353,932,358 - 96,586,363CLINVAR
Cytogenetic Map1313q14.3-32.1CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13445532
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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