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

Variant : CV248103 (GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1) Homo sapiens

Symbol: CV248103
Name: GRCh37/hg19 3q27.3-28(chr3:186291045-191037240)x1
Condition: See cases [RCV000240447]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ADIPOQ   AHSG   BCL6   CLDN1   CLDN16   DNAJB11   EIF4A2   FETUB   GMNC   HRG   IL1RAP   KNG1   LPP   MASP1   MIR28   OSTN   P3H2   RFC4   RPL39L   RTP1   RTP2   RTP4   SNORA63   SNORA81   SST   ST6GAL1   TMEM207   TP63   TPRG1   UTS2B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373186,291,045 - 191,037,240CLINVAR
Cytogenetic Map33q27.3-28CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 11541842
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.