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Variant : CV75003 (GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1) Homo sapiens

Symbol: CV75003
Name: GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1
Condition: See cases [RCV000054306]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC090821.2   AC103764.1   AC110741.1   ADCY8   ASAP1   ASAP1-IT1   ASAP1-IT2   CASC11   CASC19   CASC21   CASC8   CCAT1   CCAT2   CCDC26   CCN4   CYRIB   EFR3A   GSDMC   HHLA1   HPYR1   KCNQ3   KHDRBS3   LINC00824   LINC00976   LINC00977   LINC01591   LINC02055   LOC105375773   LOC106867047   LOC107403242   LOC108228207   LOC108254690   LOC108353813   LOC110121191   LOC110121217   LOC111365157   LOC111589211   LOC113788256   LOC113788257   LOC113788258   LOC114827840   LRRC6   MIR1204   MIR1205   MIR1206   MIR1207   MIR1208   MIR30B   MIR30D   MIR3686   MIR5194   MIR7848   MYC   NCRNA00250   NDRG1   OC90   PCAT1   PCAT2   PHF20L1   POU5F1B   PRNCR1   PTCSC1   PVT1   SLA   ST3GAL1   TG   TMEM71   TMEM75   ZFAT   ZFAT-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_126626164)_(137169427_?)del
NC_000008.10:g.(?_127638409)_(138181670_?)del
NC_000008.9:g.(?_127707591)_(138250852_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh388126,626,164 - 137,169,427CLINVAR
GRCh378127,638,409 - 138,181,670CLINVAR
Build 368127,707,591 - 138,250,852CLINVAR
Cytogenetic Map88q24.21-24.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621197
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-11-17
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.