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Variant : CV624093 (GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1) Homo sapiens

Symbol: CV624093
Name: GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1
Condition: Shprintzen syndrome [RCV000788057]
Clinical Significance: pathogenic
Last Evaluated: 03/02/2019
Review Status: no assertion criteria provided
Related Genes: AIFM3   ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   CRKL   DGCR2   DGCR6   DGCR6L   DGCR8   ESS2   FAM230A   GGT2   GGTLC3   GNB1L   GP1BB   GSC2   HIC2   HIRA   KLHL22   LZTR1   MED15   MRPL40   P2RX6   PI4KA   PRODH   RANBP1   RIMBP3   RIMBP3B   RTL10   RTN4R   SCARF2   SEPTIN5   SERPIND1   SLC25A1   SLC7A4   SNAP29   TANGO2   TBX1   THAP7   TMEM191B   TRMT2A   TSSK2   TXNRD2   UFD1   USP18   USP41   ZDHHC8   ZNF74  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372218,631,364 - 21,800,471CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome); Catch22; CHROMOSOME 22q11.2 DELETION SYNDROME; DiGeorge anomaly; DiGeorge sequence; DiGeorge Syndrome; Familial third and fourth pharyngeal pouch syndrome; Hypoplasia of thymus and parathyroid; Pharyngeal pouch syndrome; Sedlackova syndrome; Shprintzen VCF syndrome; Takao vcf syndrome; Third and fourth pharyngeal pouch syndrome; Thymic aplasia syndrome; VCF syndome; VCF SYNDROME; Velocardiofacial syndrome; Velofacial hypoplasia




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14698299
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



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