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Variant : CV216067 (GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3) Homo sapiens

Symbol: CV216067
Name: GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3
Condition: See cases [RCV000203419]
Clinical Significance: likely pathogenic
Last Evaluated: 06/29/2015
Review Status: criteria provided, single submitter
Related Genes: ADORA2A   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   GGT1   GGT5   GSTT1   GSTT2   GSTT2B   GUCD1   IGLL1   LRRC75B   MIF   MMP11   RGL4   SLC2A11   SMARCB1   SNRPD3   SPECC1L   SUSD2   UPB1   VPREB3   ZNF70  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372223,891,773 - 24,991,691CLINVAR
Cytogenetic Map2222q11.23CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 10766496
Created: 2016-02-09
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.