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Variant : CV247784 (GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1) Homo sapiens

Symbol: CV247784
Name: GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1
Condition: See cases [RCV000239941]
Clinical Significance: likely pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ALG12   BRD1   CDPF1   CELSR1   CERK   CRELD2   GRAMD4   GTSE1   MIRLET7A3   MIRLET7B   PIM3   PKDREJ   PPARA   PRR34   TAFA5   TBC1D22A   TRMU   TTC38   WNT7B   ZBED4  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372246,316,673 - 50,357,320CLINVAR
Cytogenetic Map2222q13.31-13.33CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541422
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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