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Variant : CV73288 (GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3) Homo sapiens

Symbol: CV73288
Name: GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3
Condition: See cases [RCV000052476]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC005224.3   AC005358.1   AC005772.1   AC104024.1   ADORA2B   ARHGAP44   CCDC144A   CDRT1   CDRT15   CDRT3   CDRT4   CDRT7   CDRT8   CENPV   COPS3   COX10   COX10-AS1   DNAH9   ELAC2   FAM106C   FLCN   HS3ST3A1   HS3ST3B1   LINC00670   LINC02087   LINC02090   LINC02093   LRRC75A   MAP2K4   MED9   MIR1269B   MIR1288   MIR33B   MIR4731   MIR548H3   MIR6777   MIR744   MPRIP   MYOCD   MYOCD-AS1   NCOR1   NT5M   PEMT   PIGL   PLD6   PMP22   RAI1   RAI1-AS1   RASD1   SHISA6   SMCR2   SMCR5   SNHG29   SNORD163   SNORD49A   SNORD49B   SNORD65   SREBF1   TBC1D26   TBC1D26-AS1   TEKT3   TNFRSF13B   TOM1L2   TRIM16   TRPV2   TTC19   TVP23C   TVP23C-CDRT4   UBB   ZNF18   ZNF286A   ZNF287   ZNF624   ZSWIM7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_10892259)_(17964282_?)dup
NC_000017.10:g.(?_10795576)_(17867596_?)dup
NC_000017.9:g.(?_10736301)_(17808321_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381710,892,259 - 17,964,282CLINVAR
GRCh371710,795,576 - 17,867,596CLINVAR
Build 361710,736,301 - 17,808,321CLINVAR
Cytogenetic Map1717p12-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619456
Created: 2014-05-13
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.