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Variant : CV74843 (GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1) Homo sapiens

Symbol: CV74843
Name: GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054122]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054122]|See cases [RCV000054122]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB11   AGPS   ATF2   ATP5MC3   B3GALT1   B3GALT1-AS1   BBS5   CCDC141   CCDC173   CDCA7   CERKL   CERS6   CERS6-AS1   CHN1   CHRNA1   CHROMR   CIR1   COBLL1   CSRNP3   CWC22   CYBRD1   DCAF17   DHRS9   DLX1   DLX2   DLX2-DT   DYNC1I2   ERICH2   EVX2   FASTKD1   FKBP7   G6PC2   GAD1   GALNT3   GORASP2   GPR155   GRB14   HAGLR   HAGLROS   HAT1   HNRNPA3   HOXD-AS2   HOXD1   HOXD10   HOXD11   HOXD12   HOXD13   HOXD3   HOXD4   HOXD8   HOXD9   ITGA4   ITGA6   ITGA6-AS1   ITPRID2   KLHL23   KLHL41   LINC01116   LINC01117   LINC01124   LINC01305   LINC01934   LINC01960   LNPK   LRP2   MAP3K20   MAP3K20-AS1   METAP1D   METTL5   METTL8   MIR10B   MIR1246   MIR1258   MIR3128   MIR4437   MIR4444-1   MIR4774   MIR6512   MIR7704   MIR933   MTX2   MYO3B   MYO3B-AS1   NEUROD1   NFE2L2   NOSTRIN   OLA1   OSBPL6   PDE11A   PDE11A-AS1   PDE1A   PDK1   PHOSPHO2   PJVK   PLEKHA3   PPIG   PPP1R1C   PRKRA   RAPGEF4   RAPGEF4-AS1   RBM45   SCHLAP1   SCN1A   SCN1A-AS1   SCN2A   SCN3A   SCN7A   SCN9A   SCRN3   SESTD1   SLC25A12   SLC38A11   SNORA70F   SNORD3K   SP3   SP5   SP9   SPC25   SSB   STK39   TLK1   TTC21B   TTC21B-AS1   TTC30A   TTC30B   TTN   TTN-AS1   UBE2E3   UBR3   WIPF1   XIRP2   XIRP2-AS1   ZNF385B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_163965382)_(182195062_?)del
NC_000002.11:g.(?_164821892)_(183059789_?)del
NC_000002.10:g.(?_164530138)_(182768034_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382163,965,382 - 182,195,062CLINVAR
GRCh372164,821,892 - 183,059,789CLINVAR
Build 362164,530,138 - 182,768,034CLINVAR
Cytogenetic Map22q24.3-32.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8621035
Created: 2014-05-13
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.