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Variant : CV156243 (GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1) Homo sapiens

Symbol: CV156243
Name: GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1
Condition: See cases [RCV000135774]
Clinical Significance: pathogenic
Last Evaluated: 12/22/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC104024.1   ALKBH5   ATPAF2   CCDC144A   COPS3   DRC3   DRG2   FAM106C   FLCN   FLII   GID4   LINC02090   LLGL1   MED9   MIEF2   MIR33B   MIR6777   MPRIP   MYO15A   NT5M   PEMT   PLD6   RAI1   RAI1-AS1   RASD1   SHMT1   SMCR2   SMCR5   SMCR8   SREBF1   TNFRSF13B   TOM1L2   TOP3A  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_16734588)_(18333372_?)del
NC_000017.10:g.(?_16637902)_(18236686_?)del
NC_000017.9:g.(?_16578627)_(18177411_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381716,734,588 - 18,333,372CLINVAR
GRCh371716,637,902 - 18,236,686CLINVAR
Build 361716,578,627 - 18,177,411CLINVAR
Cytogenetic Map1717p11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483340
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.