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Variant : CV72699 (GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3) Homo sapiens

Symbol: CV72699
Name: GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3
Condition: See cases [RCV000051849]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC104024.1   ADORA2B   AKAP10   ALDH3A1   ALDH3A2   ALKBH5   ATPAF2   B9D1   CCDC144A   CDRT1   CDRT15L2   CDRT3   CDRT4   CENPV   COPS3   DRC3   DRG2   EPN2   EPN2-AS1   EPN2-IT1   EVPLL   FAM106A   FAM106B   FAM106C   FAM83G   FBXW10   FLCN   FLII   FOXO3B   GID4   GRAP   GRAPL   LGALS9B   LGALS9C   LINC02076   LINC02087   LINC02088   LINC02090   LLGL1   LRRC75A   MAPK7   MED9   MFAP4   MIEF2   MIR1180   MIR1288   MIR33B   MIR4731   MIR6777   MIR6778   MPRIP   MYO15A   NCOR1   NT5M   PEMT   PIGL   PLD6   PMP22   PRPSAP2   RAI1   RAI1-AS1   RASD1   RNF112   SHMT1   SLC47A1   SLC47A2   SLC5A10   SMCR2   SMCR5   SMCR8   SNHG29   SNORA59B   SNORD163   SNORD3A   SNORD3B-1   SNORD3B-2   SNORD3C   SNORD3D   SNORD49A   SNORD49B   SNORD65   SPECC1   SREBF1   TBC1D26   TBC1D26-AS1   TBC1D28   TEKT3   TNFRSF13B   TOM1L2   TOP3A   TRG-CCC3-1   TRIM16   TRIM16L   TRPV2   TRW-CCA2-1   TTC19   TVP23B   TVP23C   TVP23C-CDRT4   UBB   ULK2   ZNF286A   ZNF287   ZNF624   ZSWIM7  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_15234685)_(20620700_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381715,234,685 - 20,620,700CLINVAR
GRCh371715,138,002 - 20,524,013CLINVAR
Build 361715,078,727 - 20,464,605CLINVAR
Cytogenetic Map1717p12-11.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8618860
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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