Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV158716 (GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3) Homo sapiens

Symbol: CV158716
Name: GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3
Condition: See cases [RCV000138027]
Clinical Significance: pathogenic
Last Evaluated: 12/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARFGEF1   C8orf34   C8orf34-AS1   C8orf44   C8orf44-SGK3   C8orf89   CASC9   COPS5   CPA6   CRISPLD1   CSPP1   ELOC   EYA1   GDAP1   HEY1   HNF4G   IL7   JPH1   KCNB2   LACTB2   LACTB2-AS1   LINC01111   LINC01592   LINC01603   LINC01607   LINC01617   LINC02605   LY96   MCMDC2   MIR12123   MIR2052   MIR2052HG   MIR3149   MIR5681A   MIR5681B   MRPS28   MSC   MSC-AS1   NCOA2   PEX2   PI15   PKIA   PKIA-AS1   PPP1R42   PRDM14   PREX2   RDH10   RDH10-AS1   RPL7   SBSPON   SGK3   SLCO5A1   SNHG6   SNORD87   STAU2   STAU2-AS1   STMN2   SULF1   TCF24   TERF1   TMEM70   TPD52   TRAM1   TRPA1   UBE2W   VCPIP1   XKR9   ZC2HC1A   ZFHX4   ZFHX4-AS1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_66633845)_(80100089_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38866,633,845 - 80,100,089CLINVAR
GRCh37867,546,080 - 81,012,324CLINVAR
Build 36867,708,634 - 81,174,879CLINVAR
Cytogenetic Map88q13.1-21.13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9485576
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-31
Status: ACTIVE


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