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

Variant : CV436518 (GRCh37/hg19 20p13(chr20:61568-431502)x1) Homo sapiens

Symbol: CV436518
Name: GRCh37/hg19 20p13(chr20:61568-431502)x1
Condition: See cases [RCV000510729]
Clinical Significance: pathogenic
Last Evaluated: 08/13/2015
Review Status: no assertion criteria provided
Related Genes: C20orf96   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   NRSN2   RBCK1   SOX12   TBC1D20   TRIB3   ZCCHC3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372061,568 - 431,502CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13443707
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

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