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Variant : CV157443 (GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1) Homo sapiens

Symbol: CV157443
Name: GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1
Condition: See cases [RCV000136850]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGPS   ATF2   ATP5MC3   CALCRL   CCDC141   CDCA7   CERKL   CHN1   CHRNA1   CHROMR   CIR1   COL3A1   COL5A2   CWC22   CYBRD1   DCAF17   DIRC1   DLX1   DLX2   DLX2-DT   DNAJC10   DUSP19   DYNC1I2   EVX2   FAM171B   FKBP7   FRZB   FSIP2   FSIP2-AS1   FSIP2-AS2   GPR155   GULP1   HAGLR   HAGLROS   HAT1   HNRNPA3   HOXD-AS2   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   ITGA4   ITGA6   ITGA6-AS1   ITGAV   ITPRID2   LINC01090   LINC01116   LINC01117   LINC01305   LINC01473   LINC01934   LINC01960   LNPK   MAP3K20   MAP3K20-AS1   METAP1D   METTL8   MIR10B   MIR1245A   MIR1245B   MIR1246   MIR1258   MIR3128   MIR3129   MIR3606   MIR4437   MIR4444-1   MIR548AE1   MIR561   MIR6512   MIR7704   MIR933   MTX2   NCKAP1   NEUROD1   NFE2L2   NUP35   OLA1   OSBPL6   PDE11A   PDE11A-AS1   PDE1A   PDK1   PJVK   PLEKHA3   PPP1R1C   PRKRA   RAPGEF4   RAPGEF4-AS1   RBM45   SCHLAP1   SCRN3   SESTD1   SLC25A12   SP3   SP9   TFPI   TTC30A   TTC30B   TTN   TTN-AS1   UBE2E3   WIPF1   ZC3H15   ZNF385B   ZNF804A   ZSWIM2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_171429233)_(189179568_?)del
Human AssemblyChrPosition (strand)Source
GRCh382171,429,233 - 189,179,568CLINVAR
GRCh372172,285,743 - 190,044,294CLINVAR
Build 362171,993,989 - 189,752,539CLINVAR
Cytogenetic Map22q31.1-32.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9484411
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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