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

Variant : CV224851 (NC_000017.11:g.(?_27647231)_(27748498_?)del) Homo sapiens

Symbol: CV224851
Name: NC_000017.11:g.(?_27647231)_(27748498_?)del
Condition: Autism spectrum disorder [RCV000208746]
Clinical Significance: uncertain significance
Last Evaluated: 01/01/2012
Review Status: no assertion criteria provided
Related Genes: LGALS9  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: research
HGVS Name(s): NC_000017.11:g.(?_27647231)_(27748498_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381727,647,231 - 27,748,498CLINVAR
GRCh371725,974,257 - 26,075,524CLINVAR
Cytogenetic Map1717q11.2CLINVAR
Trait Synonyms: Autism spectrum disorders; Autism susceptibility; Epilepsy; Seizure Disorders



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11050299
Created: 2016-04-12
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE



NHLBI Logo

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