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Variant : CV228051 (GRCh37/hg19 22q11.21(chr22:18637139-20289862)) Homo sapiens

Symbol: CV228051
Name: GRCh37/hg19 22q11.21(chr22:18637139-20289862)
Condition: Abnormality of esophagus morphology [RCV000416656]
Clinical Significance: likely pathogenic
Last Evaluated: 12/15/2015
Review Status: criteria provided, single submitter
Related Genes: ARVCF   C22orf39   CDC45   CLDN5   CLTCL1   COMT   DGCR2   DGCR6   DGCR8   ESS2   GNB1L   GP1BB   GSC2   HIRA   MRPL40   PRODH   RANBP1   RTL10   RTN4R   SEPTIN5   SLC25A1   TANGO2   TBX1   TRMT2A   TSSK2   TXNRD2   UFD1   USP18   ZDHHC8  
Variant Type: copy number gain (SO:0001742)
Evidence: research
Human AssemblyChrPosition (strand)Source
GRCh372218,637,139 - 20,289,862CLINVAR
Cytogenetic Map2222q11.21CLINVAR
Trait Synonyms: Anomaly of the esophagus

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12791344
Created: 2017-03-07
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.