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Variant : CV595410 (GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1) Homo sapiens

Symbol: CV595410
Name: GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1
Condition: not provided [RCV000740710]
Clinical Significance: pathogenic
Last Evaluated: 07/26/2012
Review Status: no assertion criteria provided
Related Genes: AGPS   ATF2   ATP5MC3   CCDC141   CHN1   CHRNA1   CIR1   CWC22   EVX2   FKBP7   GPR155   HNRNPA3   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   LNPK   MIR10B   MIR1258   MTX2   NFE2L2   OLA1   OSBPL6   PDE11A   PJVK   PLEKHA3   PRKRA   RBM45   SCRN3   SESTD1   SP3   SP9   TTC30A   TTC30B   TTN   WIPF1   ZNF385B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372174,238,257 - 181,604,341CLINVAR
Cytogenetic Map22q31.1-31.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14356084
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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