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Variant : CV74892 (GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1) Homo sapiens

Symbol: CV74892
Name: GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1
Condition: Obesity [RCV000054173]|See cases [RCV000054173]
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   AGK   AKR1D1   ATP6V0A4   BRAF   CASP2   CHRM2   CLCN1   CLEC2L   CLEC5A   CNOT4   CREB3L2   CREB3L2-AS1   CTAGE15   CTAGE6   DENND11   DENND2A   DGKI   EPHA1   EPHA1-AS1   EPHB6   FAM131B   FAM180A   FMC1   FMC1-LUC7L2   GSTK1   HIPK2   KDM7A   KDM7A-DT   KEL   KIAA1549   KLRG2   LLCFC1   LUC7L2   LUZP6   MGAM   MGAM2   MIR10399   MIR11400   MIR4468   MIR490   MIR6892   MKRN1   MRPS33   MTPN   MTRNR2L6   NDUFB2   NDUFB2-AS1   NUP205   OR10AC1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A5   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   PARP12   PIP   PRSS1   PRSS2   PRSS37   PRSS58   PTN   RAB19   SLC13A4   SLC37A3   SSBP1   STMP1   SVOPL   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TMEM139   TMEM178B   TMEM213   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   TRBV6-3   TRBV6-4   TRBV6-5   TRBV6-6   TRBV6-8   TRBV7-2   TRBV7-3   TRBV7-4   TRBV7-6   TRBV7-7   TRBV7-9   TRBV9   TRIM24   TRPV5   TRPV6   TRR-CCT4-1   TTC26   UBN2   WEE2   WEE2-AS1   ZC3HAV1   ZC3HAV1L   ZYX  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_135414108)_(144140219_?)del
NC_000007.13:g.(?_135098857)_(143837312_?)del
NC_000007.12:g.(?_134749397)_(143468245_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh387135,414,108 - 144,140,219CLINVAR
GRCh377135,098,857 - 143,837,312CLINVAR
Build 367134,749,397 - 143,468,245CLINVAR
Cytogenetic Map77q33-35CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8621084
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.