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Variant : CV821388 (NC_000022.10:g.(?_18910310)_(19770565_?)dup) Homo sapiens

Symbol: CV821388
Name: NC_000022.10:g.(?_18910310)_(19770565_?)dup
Condition: DiGeorge sequence [RCV001031037]
Clinical Significance: uncertain significance
Last Evaluated: 05/15/2019
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: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_18910310)_(19770565_?)dup
Human AssemblyChrPosition (strand)Source
GRCh372218,910,310 - 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: 26905953
Created: 2020-05-12
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.