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Variant : CV470834 (NC_000022.10:g.(?_18900668)_(19770565_?)del) Homo sapiens

Symbol: CV470834
Name: NC_000022.10:g.(?_18900668)_(19770565_?)del
Condition: DiGeorge sequence [RCV000531380]
Clinical Significance: pathogenic
Last Evaluated: 12/11/2018
Review Status: criteria provided, single submitter
Related Genes: C22orf39   CDC45   CLDN5   CLTCL1   DGCR2   ESS2   GP1BB   GSC2   HIRA   MRPL40   PRODH   SEPTIN5   SLC25A1   TBX1   TSSK2   UFD1  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_18900668)_(19770565_?)del
Human AssemblyChrPosition (strand)Source
GRCh372218,900,668 - 19,770,565CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome); Catch22; Chromosome 22q11.2 deletion syndrome; DiGeorge anomaly; DiGeorge Syndrome; Familial third and fourth pharyngeal pouch syndrome; Hypoplasia of thymus and parathyroid; Pharyngeal pouch syndrome; Sedlackova syndrome; Third and fourth pharyngeal pouch syndrome; Thymic aplasia syndrome; Velofacial hypoplasia

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13486665
Created: 2018-01-09
Species: Homo sapiens
Last Modified: 2020-07-21
Status: ACTIVE


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