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Variant : CV71819 (GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3) Homo sapiens

Symbol: CV71819
Name: GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3
Condition: See cases [RCV000050888]
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   ALKBH5   ATPAF2   COPS3   DRC3   DRG2   EVPLL   FAM106A   FAM83G   FBXW10   FLCN   FLII   FOXO3B   GID4   LGALS9C   LINC02076   LINC02090   LLGL1   MED9   MIEF2   MIR33B   MIR6777   MIR6778   MPRIP   MYO15A   NT5M   PEMT   PLD6   PRPSAP2   RAI1   RAI1-AS1   RASD1   SHMT1   SLC5A10   SMCR2   SMCR5   SMCR8   SREBF1   TBC1D28   TNFRSF13B   TOM1L2   TOP3A   TRIM16L   TVP23B  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_16879232)_(18970941_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381716,879,232 - 18,970,941CLINVAR
GRCh371716,782,546 - 18,874,254CLINVAR
Build 361716,723,271 - 18,814,979CLINVAR
Cytogenetic Map1717p11.2CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8617951
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.