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Variant : CV165314 (GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3) Homo sapiens

Symbol: CV165314
Name: GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3
Condition: See cases [RCV000143627]
Clinical Significance: uncertain significance
Last Evaluated: 10/01/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADORA2A   ADORA2A-AS1   C22orf15   CABIN1   CHCHD10   DDT   DDTL   DERL3   DRICH1   FAM230I   GGT1   GGT5   GSTT2   GSTT2B   GSTT4   GUCD1   IGLL1   LINC01659   LINC02557   LOC111721701   LOC111721702   LOC111828506   LOC112694770   LRRC75B   MIF   MIF-AS1   MMP11   PCAT14   RGL4   SLC2A11   SMARCB1   SNRPD3   SPECC1L   SPECC1L-ADORA2A   SUSD2   UPB1   VPREB3   ZNF70  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_23348201)_(24647020_?)dup
NC_000022.10:g.(?_23690388)_(25042987_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382223,348,201 - 24,647,020CLINVAR
GRCh372223,690,388 - 25,042,987CLINVAR
Build 362222,020,388 - 23,372,987CLINVAR
Cytogenetic Map2222q11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9491225
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.