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Variant : CV165284 (GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1) Homo sapiens

Symbol: CV165284
Name: GRCh38/hg38 2q31.1-31.3(chr2:174236451-181188846)x1
Condition: See cases [RCV000143597]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGPS   ATF2   ATP5MC3   CCDC141   CHN1   CHRNA1   CHROMR   CIR1   CWC22   EVX2   FKBP7   GPR155   HAGLR   HAGLROS   HNRNPA3   HOXD-AS2   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   LINC01116   LINC01117   LINC01305   LINC01934   LNPK   MIR10B   MIR1246   MIR1258   MIR3128   MIR4444-1   MIR6512   MIR7704   MIR933   MTX2   NFE2L2   OLA1   OSBPL6   PDE11A   PDE11A-AS1   PJVK   PLEKHA3   PRKRA   RBM45   SCHLAP1   SCRN3   SESTD1   SP9   TTC30A   TTC30B   TTN   TTN-AS1   UBE2E3   WIPF1   ZNF385B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_174236451)_(181188846_?)del
NC_000002.11:g.(?_175101179)_(182053573_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382174,236,451 - 181,188,846CLINVAR
GRCh372175,101,179 - 182,053,573CLINVAR
Build 362174,809,425 - 181,761,818CLINVAR
Cytogenetic Map22q31.1-31.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9491195
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.