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Variant : CV381545 (GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1) Homo sapiens

Symbol: CV381545
Name: GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1
Condition: See cases [RCV000446984]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ANKRD44   AOX1   BOLL   BZW1   C2orf66   C2orf69   CCDC150   CLK1   COQ10B   DNAH7   FTCDNL1   GTF3C3   HECW2   HSPD1   HSPE1   KCTD18   MAIP1   MARS2   MOB4   PGAP1   PLCL1   PPIL3   RFTN2   SATB2   SF3B1   SGO2   SLC39A10   SPATS2L   STK17B   TYW5  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372194,581,315 - 201,752,422CLINVAR
Cytogenetic Map22q32.3-33.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 12851704
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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