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Variant : CV590370 (NC_000022.10:g.21808950_22963000del1154051) Homo sapiens

Symbol: CV590370
Name: NC_000022.10:g.21808950_22963000del1154051
Condition: Chromosome 22q11.2 deletion syndrome, distal [RCV000785668]
Clinical Significance: pathogenic
Last Evaluated: 12/07/2018
Review Status: criteria provided, single submitter
Related Genes: CCDC116   MAPK1   MIR130B   PPIL2   PPM1F   PPM1F-AS1   PRAME   RIMBP3C   SDF2L1   TMEM191C   TOP3B   UBE2L3   VPREB1   YDJC   YPEL1   ZNF280A   ZNF280B  
Variant Type: deletion (SO:0000159)
Evidence: research
HGVS Name(s): NC_000022.10:g.21808950_22963000del1154051
Human AssemblyChrPosition (strand)Source
GRCh372221,808,950 - 22,963,000CLINVAR
Cytogenetic Map2222q11.21-11.22CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 14696123
Created: 2019-07-09
Species: Homo sapiens
Last Modified: 2019-11-05
Status: ACTIVE


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