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Variant : CV157358 (GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1) Homo sapiens

Symbol: CV157358
Name: GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1
Condition: See cases [RCV000136773]
Clinical Significance: pathogenic
Last Evaluated: 01/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC116535.1   ADM   AMPD3   ARNTL   BTBD10   C11orf58   CALCA   CALCB   CAND1.11   COPB1   CSNK2A3   CTR9   CYP2R1   DKK3   EIF4G2   FAR1   GALNT18   INSC   IRAG1   IRAG1-AS1   LINC00958   LINC02545   LINC02547   LINC02548   LINC02682   LINC02683   LINC02751   LOC106736470   LOC107988023   LOC108254681   LOC108281125   LOC110120848   LOC110120922   LOC110120926   LOC110120947   LOC110121340   LOC110121343   LOC110121434   LOC111413037   LOC111982890   LOC112042781   LOC112042782   LOC112067712   LOC114827852   LYVE1   MICAL2   MICALCL   MIR4299   MIR4485   MIR6073   MIR6124   MIR8070   MTRNR2L8   PARVA   PDE3B   PLEKHA7   PSMA1   PTH   RASSF10   RASSF10-DT   RNF141   RRAS2   SBF2   SNORD97   SOX6   SPON1   TEAD1   USP47   ZBED5   ZBED5-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_9989516)_(16825806_?)del
NC_000011.9:g.(?_10011063)_(16847353_?)del
NC_000011.8:g.(?_9967639)_(16803929_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38119,989,516 - 16,825,806CLINVAR
GRCh371110,011,063 - 16,847,353CLINVAR
Build 36119,967,639 - 16,803,929CLINVAR
Cytogenetic Map1111p15.4-15.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484334
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.