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Variant : CV676763 (GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1) Homo sapiens

Symbol: CV676763
Name: GRCh37/hg19 2q32.3-33.1(chr2:195786723-200531127)x1
Condition: not provided [RCV000849862]
Clinical Significance: pathogenic
Last Evaluated: 04/17/2017
Review Status: no assertion criteria provided
Related Genes: ANKRD44   BOLL   C2orf66   CCDC150   COQ10B   DNAH7   GTF3C3   HECW2   HSPD1   HSPE1   MARS2   MOB4   PGAP1   PLCL1   RFTN2   SATB2   SF3B1   SLC39A10   STK17B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372195,786,723 - 200,531,127CLINVAR
Cytogenetic Map22q32.3-33.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14981354
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-03-24
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.