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Variant : CV74848 (GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1) Homo sapiens

Symbol: CV74848
Name: GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054127]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054127]|See cases [RCV000054127]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AGPS   ATF2   ATP5MC3   CCDC141   CDCA7   CERKL   CHN1   CHRNA1   CHROMR   CIR1   CWC22   CYBRD1   DCAF17   DLX1   DLX2   DLX2-DT   DNAJC10   DUSP19   DYNC1I2   ERICH2   EVX2   FKBP7   FRZB   FSIP2   FSIP2-AS1   FSIP2-AS2   GAD1   GORASP2   GPR155   HAGLR   HAGLROS   HAT1   HNRNPA3   HOXD-AS2   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   ITGA4   ITGA6   ITGA6-AS1   ITPRID2   LINC01116   LINC01117   LINC01124   LINC01305   LINC01473   LINC01934   LINC01960   LNPK   MAP3K20   MAP3K20-AS1   METAP1D   METTL8   MIR10B   MIR1246   MIR1258   MIR3128   MIR4437   MIR4444-1   MIR548AE1   MIR6512   MIR7704   MIR933   MTX2   MYO3B   NCKAP1   NEUROD1   NFE2L2   NUP35   OLA1   OSBPL6   PDE11A   PDE11A-AS1   PDE1A   PDK1   PJVK   PLEKHA3   PPP1R1C   PRKRA   RAPGEF4   RAPGEF4-AS1   RBM45   SCHLAP1   SCRN3   SESTD1   SLC25A12   SP3   SP5   SP9   TLK1   TTC30A   TTC30B   TTN   TTN-AS1   UBE2E3   WIPF1   ZNF385B   ZNF804A  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_170407688)_(186189894_?)del
Human AssemblyChrPosition (strand)Source
GRCh382170,407,688 - 186,189,894CLINVAR
GRCh372171,264,198 - 187,054,621CLINVAR
Build 362170,972,444 - 186,762,866CLINVAR
Cytogenetic Map22q31.1-32.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8621040
Created: 2014-05-13
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.