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

Variant : CV613357 (GRCh37/hg19 5p15.33(chr5:52186-4163906)x1) Homo sapiens

Symbol: CV613357
Name: GRCh37/hg19 5p15.33(chr5:52186-4163906)x1
Condition: not provided [RCV000762763]
Clinical Significance: likely pathogenic
Last Evaluated: 05/14/2018
Review Status: criteria provided, single submitter
Related Genes: AHRR   BRD9   C5orf38   CCDC127   CEP72   CLPTM1L   EXOC3   EXOC3-AS1   IRX1   IRX2   IRX4   LPCAT1   LRRC14B   MRPL36   NDUFS6   NKD2   PDCD6   PLEKHG4B   SDHA   SLC12A7   SLC6A18   SLC6A19   SLC6A3   SLC9A3   TERT   TPPP   TRIP13   ZDHHC11   ZDHHC11B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37552,186 - 4,163,906CLINVAR
Cytogenetic Map55p15.33CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14397483
Created: 2019-04-09
Species: Homo sapiens
Last Modified: 2020-02-20
Status: ACTIVE


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