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Variant : CV72366 (GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1) Homo sapiens

Symbol: CV72366
Name: GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1
Condition: Global developmental delay [RCV000051511]|See cases [RCV000051511]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD14A   ABHD14A-ACY1   ABHD14B   ACTR8   ACY1   ALAS1   AMIGO3   APEH   BAP1   BSN   BSN-DT   C3orf18   CACNA1D   CACNA2D2   CACNA2D3   CACNA2D3-AS1   CAMKV   CDHR4   CHDH   CISH   CYB561D2   DAG1   DCAF1   DCP1A   DNAH1   DOCK3   DUSP7   ESRG   GLT8D1   GLYCTK   GLYCTK-AS1   GMPPB   GNAI2   GNAT1   GNL3   GPR62   GRM2   HEMK1   HYAL1   HYAL2   HYAL3   IFRD2   IL17RB   INKA1   IP6K1   IQCF1   IQCF2   IQCF3   IQCF5   IQCF5-AS1   IQCF6   ITIH1   ITIH3   ITIH4   ITIH4-AS1   LINC00696   LINC02017   LINC02019   LINC02030   LRTM1   LSMEM2   MANF   MAPKAPK3   MIR135A1   MIR4787   MIR5193   MIR5787   MIR6872   MIR8064   MIRLET7G   MON1A   MST1   MST1R   MUSTN1   NAA80   NEK4   NISCH   NPRL2   NT5DC2   PARP3   PBRM1   PCBP4   PHF7   POC1A   PPM1M   PRKCD   RAD54L2   RASSF1   RASSF1-AS1   RBM15B   RBM5   RBM5-AS1   RBM6   RFT1   RNF123   RPL29   RRP9   SELENOK   SEMA3B   SEMA3B-AS1   SEMA3F   SEMA3F-AS1   SEMA3G   SFMBT1   SLC38A3   SMIM4   SNORD136   SNORD19   SNORD19B   SNORD19C   SNORD38C   SNORD69   SPCS1   STAB1   STIMATE   STIMATE-MUSTN1   TEX264   TKT   TLR9   TMEM115   TNNC1   TRAIP   TUSC2   TWF2   UBA7   WDR82   ZMYND10  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_49461000)_(55314500_?)del
NC_000003.11:g.(?_49498433)_(55348528_?)del
NC_000003.10:g.(?_49473437)_(55323568_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38349,461,000 - 55,314,500CLINVAR
GRCh37349,498,433 - 55,348,528CLINVAR
Build 36349,473,437 - 55,323,568CLINVAR
Cytogenetic Map33p21.31-14.3CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618526
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.