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Variant : CV624109 (GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3) Homo sapiens

Symbol: CV624109
Name: GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3
Condition: 22q11.2 distal duplication syndrome [RCV000788073]
Clinical Significance: uncertain significance
Last Evaluated: 03/02/2019
Review Status: no assertion criteria provided
Related Genes: ADORA2A   BCR   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
GRCh372223,652,517 - 25,002,659CLINVAR
Cytogenetic Map2222q11.23CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14698732
Created: 2019-08-06
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.