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

Variant : CV381658 (GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1) Homo sapiens

Symbol: CV381658
Name: GRCh37/hg19 5p15.33-15.31(chr5:22149-6500967)x1
Condition: See cases [RCV000448543]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ADAMTS16   AHRR   BRD9   C5orf38   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   ICE1   IRX1   IRX2   IRX4   LPCAT1   LRRC14B   MED10   MRPL36   NDUFS6   NKD2   PDCD6   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   TERT   TPPP   TRIP13   UBE2QL1   ZDHHC11   ZDHHC11B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37522,149 - 6,500,967CLINVAR
Cytogenetic Map55p15.33-15.31CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12853250
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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