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Variant : CV72086 (GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1) Homo sapiens

Symbol: CV72086
Name: GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1
Condition: Seizure [RCV000051201]|See cases [RCV000051201]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB11   ATF2   ATP5MC3   B3GALT1   B3GALT1-AS1   BBS5   CCDC173   CDCA7   CERS6   CERS6-AS1   CHN1   CHRNA1   CIR1   CSRNP3   CYBRD1   DCAF17   DHRS9   DLX1   DLX2   DLX2-DT   DYNC1I2   ERICH2   FASTKD1   G6PC2   GAD1   GALNT3   GORASP2   GPR155   HAT1   ITGA6   ITGA6-AS1   KLHL23   KLHL41   LINC01124   LINC01305   LINC01960   LRP2   MAP3K20   MAP3K20-AS1   METAP1D   METTL5   METTL8   MIR4774   MIR933   MYO3B   MYO3B-AS1   NOSTRIN   OLA1   PDK1   PHOSPHO2   PPIG   RAPGEF4   RAPGEF4-AS1   SCN1A   SCN1A-AS1   SCN2A   SCN3A   SCN7A   SCN9A   SCRN3   SLC25A12   SLC38A11   SNORD3K   SP3   SP5   SP9   SPC25   SSB   STK39   TLK1   TTC21B   TTC21B-AS1   UBR3   WIPF1   XIRP2   XIRP2-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_164850117)_(175559190_?)del
NC_000002.11:g.(?_165706627)_(176423918_?)del
NC_000002.10:g.(?_165414873)_(176132164_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382164,850,117 - 175,559,190CLINVAR
GRCh372165,706,627 - 176,423,918CLINVAR
Build 362165,414,873 - 176,132,164CLINVAR
Cytogenetic Map22q24.3-31.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618241
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



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