Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV74891 (GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1) Homo sapiens

Symbol: CV74891
Name: GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]|See cases [RCV000054172]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADCK2   AGBL3   AGK   AKR1B1   AKR1B10   AKR1B15   AKR1D1   ARHGEF35   ARHGEF5   ATP6V0A4   BPGM   BRAF   C7orf33   CALD1   CASP2   CHCHD3   CHRM2   CLCN1   CLEC2L   CLEC5A   CNOT4   CNTNAP2   CREB3L2   CTAGE15   CTAGE4   CTAGE6   CTAGE8   CUL1   CYREN   DENND11   DENND2A   DGKI   EPHA1   EPHA1-AS1   EPHB6   EXOC4   EZH2   FAM131B   FAM180A   FLJ40288   FMC1   FMC1-LUC7L2   GHET1   GSTK1   HIPK2   KDM7A   KDM7A-DT   KEL   KIAA1549   KLRG2   LLCFC1   LRGUK   LUC7L2   LUZP6   MGAM   MGAM2   MIR3654   MIR4468   MIR490   MIR548F4   MIR6133   MIR6509   MIR6892   MKRN1   MRPS33   MTPN   MTRNR2L6   NDUFB2   NDUFB2-AS1   NOBOX   NUP205   OR10AC1   OR2A1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   PARP12   PDIA4   PIP   PLXNA4   PRSS1   PRSS2   PRSS37   PRSS58   PTN   RAB19   RNY1   RNY3   RNY4   RNY5   SLC13A4   SLC35B4   SLC37A3   SSBP1   STMP1   STRA8   SVOPL   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TMEM139   TMEM140   TMEM178B   TMEM213   TPK1   TRB   TRBC1   TRBC2   TRBD1   TRBD2   TRBJ1-1   TRBJ1-2   TRBJ1-3   TRBJ1-4   TRBJ1-5   TRBJ1-6   TRBJ2-1   TRBJ2-2   TRBJ2-3   TRBJ2-4   TRBJ2-5   TRBJ2-6   TRBJ2-7   TRBV10-1   TRBV10-2   TRBV10-3   TRBV11-1   TRBV11-2   TRBV11-3   TRBV12-3   TRBV12-4   TRBV12-5   TRBV13   TRBV14   TRBV15   TRBV17   TRBV18   TRBV19   TRBV2   TRBV20-1   TRBV24-1   TRBV25-1   TRBV27   TRBV28   TRBV29-1   TRBV3-1   TRBV30   TRBV4-1   TRBV4-2   TRBV5-1   TRBV5-4   TRBV5-5   TRBV5-6   TRBV5-7   TRBV6-1   TRBV6-2   TRBV6-4   TRBV6-5   TRBV6-6   TRBV6-7   TRBV6-8   TRBV7-2   TRBV7-3   TRBV7-4   TRBV7-6   TRBV7-7   TRBV7-9   TRBV9   TRIM24   TRPV5   TRPV6   TRR-CCT4-1   TTC26   UBN2   WDR91   WEE2   WEE2-AS1   ZC3HAV1   ZC3HAV1L   ZNF212   ZNF282   ZNF398   ZNF425   ZNF783   ZNF786   ZYX  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_132023155)_(149309794_?)del
NC_000007.13:g.(?_131707914)_(149006885_?)del
NC_000007.12:g.(?_131358454)_(148637818_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387132,023,155 - 149,309,794CLINVAR
GRCh377131,707,914 - 149,006,885CLINVAR
Build 367131,358,454 - 148,637,818CLINVAR
Cytogenetic Map77q32.3-36.1CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8621083
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE



NHLBI Logo

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