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Variant : CV820031 (NC_000009.11:g.(?_135771850)_(137038881_?)dup) Homo sapiens

Symbol: CV820031
Name: NC_000009.11:g.(?_135771850)_(137038881_?)dup
Condition: Tuberous sclerosis 1 [RCV001033564]
Clinical Significance: uncertain significance
Last Evaluated: 01/10/2020
Review Status: criteria provided, single submitter
Related Genes: ABO   ADAMTS13   ADAMTSL2   BRD3   CACFD1   CEL   DBH   FAM163B   GBGT1   GFI1B   GTF3C5   MED22   MYMK   OBP2B   RALGDS   REXO4   RNU6ATAC   RPL7A   SARDH   SLC2A6   STKLD1   SURF1   SURF2   SURF4   SURF6   TSC1   VAV2   WDR5  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_135771850)_(137038881_?)dup
Human AssemblyChrPosition (strand)Source
GRCh379135,771,850 - 137,038,881CLINVAR
Cytogenetic Map99q34.13-34.2CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 26887531
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-10-15
Status: ACTIVE


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