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Variant : CV73289 (GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3) Homo sapiens

Symbol: CV73289
Name: GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3
Condition: See cases [RCV000052477]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ALKBH5   ATPAF2   DRC3   DRG2   FLII   GID4   LLGL1   MIEF2   MIR33B   MIR6777   MYO15A   RAI1   RAI1-AS1   SMCR2   SMCR5   SREBF1   TOM1L2   TOP3A  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_17667721)_(18301995_?)dup
NC_000017.10:g.(?_17571035)_(18205309_?)dup
NC_000017.9:g.(?_17511760)_(18146034_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381717,667,721 - 18,301,995CLINVAR
GRCh371717,571,035 - 18,205,309CLINVAR
Build 361717,511,760 - 18,146,034CLINVAR
Cytogenetic Map1717p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619457
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.