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Variant : CV75024 (GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1) Homo sapiens

Symbol: CV75024
Name: GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1
Condition: See cases [RCV000054329]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC104024.1   ADORA2B   ALKBH5   ATPAF2   CCDC144A   CENPV   COPS3   DRC3   DRG2   FAM106C   FLCN   FLII   GID4   LINC02090   LLGL1   LRRC75A   MED9   MIEF2   MIR1288   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NCOR1   NT5M   PEMT   PIGL   PLD6   RAI1   RAI1-AS1   RASD1   SHMT1   SMCR2   SMCR5   SMCR8   SNHG29   SNORD163   SNORD49A   SNORD49B   SNORD65   SREBF1   TNFRSF13B   TOM1L2   TOP3A   TRPV2   TTC19   UBB   ZNF287   ZNF624   ZSWIM7  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_15952071)_(18362819_?)del
NC_000017.10:g.(?_15855385)_(18266133_?)del
NC_000017.9:g.(?_15796110)_(18206858_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381715,952,071 - 18,362,819CLINVAR
GRCh371715,855,385 - 18,266,133CLINVAR
Build 361715,796,110 - 18,206,858CLINVAR
Cytogenetic Map1717p12-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621218
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.