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

Variant : CV821177 (NC_000017.11:g.(?_8228170)_(8382320_?)dup) Homo sapiens

Symbol: CV821177
Name: NC_000017.11:g.(?_8228170)_(8382320_?)dup
Condition: Dyskeratosis congenita [RCV001033786]
Clinical Significance: uncertain significance
Last Evaluated: 04/08/2019
Review Status: criteria provided, single submitter
Related Genes: ARHGEF15   CTC1   KRBA2   ODF4   PFAS   RANGRF   RPL26   SLC25A35  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000017.11:g.(?_8228170)_(8382320_?)dup
NC_000017.10:g.(?_8131488)_(8285638_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh37178,131,488 - 8,285,638CLINVAR
Cytogenetic Map1717p13.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26896466
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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