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Variant : CV163741 (GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3) Homo sapiens

Symbol: CV163741
Name: GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3
Condition: See cases [RCV000142169]
Clinical Significance: pathogenic
Last Evaluated: 11/05/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC104024.1   ADORA2B   ALKBH5   ATPAF2   CCDC144A   CDRT1   CENPV   COPS3   DRC3   DRG2   EVPLL   FAM106A   FAM106C   FAM83G   FBXW10   FLCN   FLII   FOXO3B   GID4   LGALS9C   LINC02076   LINC02087   LINC02090   LLGL1   LRRC75A   MED9   MIEF2   MIR1288   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NCOR1   NT5M   PEMT   PIGL   PLD6   PRPSAP2   RAI1   RAI1-AS1   RASD1   SHMT1   SLC5A10   SMCR2   SMCR5   SMCR8   SNHG29   SNORD163   SNORD49A   SNORD49B   SNORD65   SREBF1   TBC1D26   TBC1D26-AS1   TBC1D28   TNFRSF13B   TOM1L2   TOP3A   TRIM16   TRIM16L   TRPV2   TTC19   TVP23B   TVP23C   TVP23C-CDRT4   UBB   ZNF286A   ZNF287   ZNF624   ZSWIM7  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_15552362)_(19014200_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381715,552,362 - 19,014,200CLINVAR
GRCh371715,455,676 - 18,917,513CLINVAR
Build 361715,396,401 - 18,858,238CLINVAR
Cytogenetic Map1717p12-11.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489688
Created: 2014-09-09
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.