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

Variant : CV247789 (GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1) Homo sapiens

Symbol: CV247789
Name: GRCh37/hg19 7q11.23(chr7:73591993-75914797)x1
Condition: See cases [RCV000240532]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: CASTOR2   CCL24   CCL26   CLIP2   EIF4H   GTF2I   GTF2IRD1   GTF2IRD2   GTF2IRD2B   HIP1   LAT2   MDH2   MIR590   NCF1   POM121C   POR   RCC1L   RFC2   RHBDD2   SPDYE5   SRRM3   STYXL1   TMEM120A   TRIM73  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37773,591,993 - 75,914,797CLINVAR
Cytogenetic Map77q11.23CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541914
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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