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Variant : CV573917 (NC_000022.10:g.(?_19709951)_(19963280_?)del) Homo sapiens

Symbol: CV573917
Name: NC_000022.10:g.(?_19709951)_(19963280_?)del
Condition: DiGeorge sequence [RCV000708350]
Clinical Significance: pathogenic
Last Evaluated: 05/04/2018
Review Status: criteria provided, single submitter
Related Genes: ARVCF   COMT   GNB1L   GP1BB   MIR4761   RTL10   SEPTIN5   TBX1   TXNRD2  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000022.10:g.(?_19709951)_(19963280_?)del
Human AssemblyChrPosition (strand)Source
GRCh382219,722,428 - 19,975,757CLINVAR
GRCh372219,709,951 - 19,963,280CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome); Catch22; DiGeorge Syndrome; Velofacial hypoplasia

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13819482
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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