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Variant : CV820968 (NC_000016.9:g.(?_1203718)_(2185710_?)del) Homo sapiens

Symbol: CV820968
Name: NC_000016.9:g.(?_1203718)_(2185710_?)del
Condition: Tuberous sclerosis 2 [RCV001033886]
Clinical Significance: pathogenic
Last Evaluated: 03/10/2019
Review Status: criteria provided, single submitter
Related Genes: BAIAP3   C16orf91   CACNA1H   CCDC154   CLCN7   CRAMP1   EME2   FAHD1   GFER   GNPTG   HAGH   HS3ST6   IFT140   IGFALS   JPT2   MAPK8IP3   MEIOB   MIR1225   MRPS34   MSRB1   NDUFB10   NME3   NOXO1   NPW   NTHL1   NUBP2   PKD1   PTX4   RNF151   RPL3L   RPS2   SLC9A3R2   SNHG9   SPSB3   SYNGR3   TBL3   TELO2   TMEM204   TPSAB1   TPSB2   TPSD1   TPSG1   TSC2   TSR3   UBE2I   UNKL   ZNF598  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000016.9:g.(?_1203718)_(2185710_?)del
Human AssemblyChrPosition (strand)Source
GRCh37161,203,718 - 2,185,710CLINVAR
Cytogenetic Map1616p13.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 26898721
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.