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Variant : CV72655 (GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3) Homo sapiens

Symbol: CV72655
Name: GRCh38/hg38 1p34.3-34.1(chr1:38222737-45636176)x3
Condition: Global developmental delay [RCV000051803]|See cases [RCV000051803]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKIRIN1   AKR1A1   ARMH1   ARTN   ATP6V0B   B4GALT2   BEST4   BMP8A   BMP8B   BTBD19   C1orf210   C1orf50   CAP1   CCDC163   CCDC17   CCDC24   CCDC30   CDC20   CFAP57   CITED4   CLDN19   COL9A2   CTPS1   DMAP1   DPH2   EBNA1BP2   EDN2   EIF2B3   ELOVL1   ERI3   ERI3-IT1   ERMAP   EXO5   FAM183A   FOXJ3   FOXO6   FOXO6-AS1   GJA9   GPBP1L1   GUCA2A   GUCA2B   HECTD3   HEYL   HIVEP3   HPCAL4   HPDL   HYI   IPO13   KCNQ4   KDM4A   KDM4A-AS1   KIAA0754   KIF2C   KLF17   KLF18   LINC01144   LINC01685   MACF1   MED8   MFSD2A   MIR30C1   MIR30E   MIR5584   MIR6079   MIR6733   MIR6734   MIR6735   MMACHC   MPL   MUTYH   MYCBP   MYCL   MYCL-AS1   NASP   NDUFS5   NFYC   NFYC-AS1   NT5C1A   OXCT2   P3H1   PABPC4   PABPC4-AS1   PLK3   PPCS   PPIE   PPIH   PPT1   PRDX1   PTCH2   PTPRF   RHBDL2   RIMKLA   RIMS3   RLF   RNF220   RNU5D-1   RNU5F-1   RPS8   RRAGC   SCMH1   SLC2A1   SLC2A1-AS1   SLC6A9   SLFNL1   SLFNL1-AS1   SMAP2   SNORA110   SNORA55   SNORD145   SNORD160   SNORD38A   SNORD38B   SNORD46   SNORD55   ST3GAL3   SVBP   SZT2   SZT2-AS1   TCTEX1D4   TESK2   TIE1   TMCO2   TMEM125   TMEM269   TMEM269-DT   TMEM53   TOE1   TRIT1   UROD   YBX1   ZFP69   ZFP69B   ZMPSTE24   ZMYND12   ZNF684   ZNF691   ZSWIM5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_38222737)_(45636176_?)dup
NC_000001.10:g.(?_38688409)_(46101848_?)dup
NC_000001.9:g.(?_38460996)_(45874435_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38138,222,737 - 45,636,176CLINVAR
GRCh37138,688,409 - 46,101,848CLINVAR
Build 36138,460,996 - 45,874,435CLINVAR
Cytogenetic Map11p34.3-34.1CLINVAR
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
 
CRRD Object Information
CRRD ID: 8618815
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-12
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.