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

Variant : CV247952 (GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1) Homo sapiens

Symbol: CV247952
Name: GRCh37/hg19 5q33.2-35.1(chr5:154886174-169757448)x1
Condition: See cases [RCV000240059]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: AC034199.1   ADAM19   ADRA1B   ATP10B   C1QTNF2   C5orf52   C5orf58   CCNG1   CCNJL   CLINT1   CYFIP2   DOCK2   EBF1   FABP6   FAM71B   FNDC9   FOXI1   GABRA1   GABRA6   GABRB2   GABRG2   HAVCR1   HAVCR2   HMMR   IL12B   INSYN2B   ITK   LCP2   LSM11   MAT2B   MED7   MIR103A1   MIR146A   NIPAL4   NUDCD2   PANK3   PTTG1   PWWP2A   RARS1   RNF145   SGCD   SLIT3   SLU7   SOX30   SPDL1   TENM2   THG1L   TIMD4   TTC1   UBLCP1   WWC1   ZBED8  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh375154,886,174 - 169,757,448CLINVAR
Cytogenetic Map55q33.2-35.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541519
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


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