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

Variant : CV247812 (GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3) Homo sapiens

Symbol: CV247812
Name: GRCh37/hg19 8q13.3-21.13(chr8:70971013-82019151)x3
Condition: See cases [RCV000240367]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: CRISPLD1   ELOC   EYA1   GDAP1   HEY1   HNF4G   IL7   JPH1   KCNB2   LACTB2   LY96   MRPS28   MSC   NCOA2   PAG1   PEX2   PI15   PKIA   PRDM14   RDH10   RDH10-AS1   RPL7   SBSPON   STAU2   STMN2   TERF1   TMEM70   TPD52   TRAM1   TRPA1   UBE2W   XKR9   ZBTB10   ZC2HC1A   ZFHX4   ZNF704  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37870,971,013 - 82,019,151CLINVAR
Cytogenetic Map88q13.3-21.13CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541775
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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