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Variant : CV820974 (NC_000016.9:g.(?_624055)_(2148005_?)del) Homo sapiens

Symbol: CV820974
Name: NC_000016.9:g.(?_624055)_(2148005_?)del
Condition: Tuberous sclerosis 2 [RCV001033183]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2019
Review Status: criteria provided, single submitter
Related Genes: ANTKMT   BAIAP3   C16orf91   C1QTNF8   CACNA1H   CCDC154   CCDC78   CHTF18   CIAO3   CLCN7   CRAMP1   EME2   FAHD1   FBXL16   GFER   GNG13   GNPTG   HAGH   HAGHL   HS3ST6   IFT140   IGFALS   JMJD8   JPT2   LMF1   MAPK8IP3   MCRIP2   MEIOB   METRN   METTL26   MIR1225   MRPS34   MSLN   MSRB1   NDUFB10   NME3   NOXO1   NPW   NTHL1   NUBP2   PIGQ   PKD1   PRR25   PTX4   RAB40C   RHBDL1   RHOT2   RNF151   RPL3L   RPS2   RPUSD1   SLC9A3R2   SNHG9   SOX8   SPSB3   SSTR5   STUB1   SYNGR3   TBL3   TELO2   TMEM204   TPSAB1   TPSB2   TPSD1   TPSG1   TSC2   TSR3   UBE2I   UNKL   WDR24   WDR90   WFIKKN1   ZNF598  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000016.9:g.(?_624055)_(2148005_?)del
Human AssemblyChrPosition (strand)Source
GRCh3716624,055 - 2,148,005CLINVAR
Cytogenetic Map1616p13.3CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 26898566
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.