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Variant : CV71683 (GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3) Homo sapiens

Symbol: CV71683
Name: GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3
Condition: See cases [RCV000050701]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC073585.1   ACADSB   AL603764.2   ARMS2   ATE1   ATE1-AS1   BAG3   BTBD16   C10orf120   C10orf88   CUZD1   DMBT1   FAM24A   FAM24B   FGFR2   GRK5   HTRA1   IKZF5   INPP5F   LINC01153   LINC01561   MCMBP   MIR3941   MIR4681   MIR4682   NSMCE4A   PLEKHA1   PLPP4   PSTK   RGS10   SEC23IP   TACC2   TIAL1   WDR11   WDR11-AS1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_119273012)_(123117390_?)dup
Human AssemblyChrPosition (strand)Source
GRCh3810119,273,012 - 123,117,390CLINVAR
GRCh3710121,032,524 - 124,876,906CLINVAR
Build 3610121,022,514 - 124,866,896CLINVAR
Cytogenetic Map1010q26.11-26.13CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 8617791
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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