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Variant : CV72669 (GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3) Homo sapiens

Symbol: CV72669
Name: GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKR1A1   ARMH1   ARTN   ATP6V0B   ATPAF1   B4GALT2   BEST4   BMP8A   BMP8B   BTBD19   C1orf210   C1orf50   CAP1   CCDC17   CCDC24   CCDC30   CDC20   CFAP57   CITED4   CLDN19   CMPK1   COL9A2   CTPS1   CYP4A11   CYP4A22   CYP4B1   CYP4X1   CYP4Z1   DMAP1   DMBX1   DPH2   EBNA1BP2   EDN2   EFCAB14   EFCAB14-AS1   EIF2B3   ELOVL1   ERI3   ERI3-IT1   ERMAP   EXO5   FAAH   FAM183A   FOXD2   FOXD2-AS1   FOXE3   FOXJ3   FOXO6   GPBP1L1   GUCA2A   GUCA2B   HECTD3   HEYL   HIVEP3   HPCAL4   HPDL   HYI   IPO13   IPP   KCNQ4   KDM4A   KDM4A-AS1   KIF2C   KLF17   KNCN   LINC00853   LINC01144   LINC01389   LINC01398   LRRC41   LURAP1   MACF1   MAST2   MED8   MFSD2A   MIR30C1   MIR30E   MIR5584   MIR6079   MIR6733   MIR6734   MIR6735   MKNK1   MKNK1-AS1   MMACHC   MOB3C   MPL   MUTYH   MYCL   NASP   NFYC   NFYC-AS1   NSUN4   NT5C1A   OXCT2   P3H1   PABPC4   PDZK1IP1   PIK3R3   PLK3   POMGNT1   PPCS   PPIE   PPIH   PPT1   PRDX1   PTCH2   PTPRF   RAD54L   RIMKLA   RIMS3   RLF   RNF220   RNU5D-1   RNU5F-1   RPS8   SCMH1   SLC2A1   SLC2A1-AS1   SLC6A9   SLFNL1   SLFNL1-AS1   SMAP2   SNORA110   SNORA55   SNORD38A   SNORD38B   SNORD46   SNORD55   ST3GAL3   STIL   SVBP   SZT2   TAL1   TCTEX1D4   TESK2   TEX38   TIE1   TMCO2   TMEM125   TMEM269   TMEM53   TMEM69   TOE1   TRIT1   TSPAN1   UQCRH   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.(?_39479787)_(47688131_?)dup
NC_000001.10:g.(?_39945459)_(48153803_?)dup
NC_000001.9:g.(?_39718046)_(47926390_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38139,479,787 - 47,688,131CLINVAR
GRCh37139,945,459 - 48,153,803CLINVAR
Build 36139,718,046 - 47,926,390CLINVAR
Cytogenetic Map11p34.3-33CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8618829
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2017-10-31
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.