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Variant : CV804697 (GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3) Homo sapiens

Symbol: CV804697
Name: GRCh37/hg19 22q11.23-12.1(chr22:24311474-26075188)x3
Condition: See cases [RCV001007417]
Clinical Significance: uncertain significance
Last Evaluated: 04/25/2018
Review Status: criteria provided, single submitter
Related Genes: ADORA2A   CABIN1   CRYBB2   CRYBB3   DDT   DDTL   GGT1   GGT5   GRK3   GSTT1   GSTT2   GUCD1   KIAA1671   LRP5L   LRRC75B   PIWIL3   SGSM1   SNRPD3   SPECC1L   SUSD2   TMEM211   UPB1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372224,311,474 - 26,075,188CLINVAR
Cytogenetic Map2222q11.23-12.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 25323767
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-09-08
Status: ACTIVE


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