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Variant : CV157839 (GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3) Homo sapiens

Symbol: CV157839
Name: GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3
Condition: See cases [RCV000137171]
Clinical Significance: pathogenic|likely pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC104024.1   ADORA2B   ALKBH5   ATPAF2   CCDC144A   CDRT1   CDRT3   CDRT4   CENPV   COPS3   DRC3   DRG2   FAM106C   FLCN   FLII   GID4   LINC02087   LINC02090   LLGL1   LRRC75A   MED9   MIEF2   MIR1288   MIR33B   MIR4731   MIR6777   MPRIP   MYO15A   NCOR1   NT5M   PEMT   PIGL   PLD6   PMP22   RAI1   RAI1-AS1   RASD1   SMCR2   SMCR5   SNHG29   SNORD163   SNORD49A   SNORD49B   SNORD65   SREBF1   TBC1D26   TBC1D26-AS1   TEKT3   TNFRSF13B   TOM1L2   TOP3A   TRIM16   TRPV2   TTC19   TVP23C   TVP23C-CDRT4   UBB   ZNF286A   ZNF287   ZNF624   ZSWIM7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_15210400)_(18280816_?)dup
NC_000017.10:g.(?_15113717)_(18184130_?)dup
NC_000017.9:g.(?_15054442)_(18124855_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381715,210,400 - 18,280,816CLINVAR
GRCh371715,113,717 - 18,184,130CLINVAR
Build 361715,054,442 - 18,124,855CLINVAR
Cytogenetic Map1717p12-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484730
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.