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Variant : CV72647 (GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3) Homo sapiens

Symbol: CV72647
Name: GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AADACL3   AADACL4   AGMAT   AGTRAP   ANGPTL7   ANO7L1   ARHGEF19   ATP13A2   C1orf127   C1orf158   C1orf167   C1orf195   CA6   CAMTA1   CAMTA1-IT1   CASP9   CASZ1   CELA2A   CELA2B   CENPS   CENPS-CORT   CLCN6   CLCNKA   CLCNKB   CLSTN1   CORT   CPLANE2   CROCC   CTNNBIP1   CTRC   DDI2   DFFA   DHRS3   DISP3   DNAJC16   DRAXIN   EFHD2   ENO1   ENO1-AS1   EPHA2   ERRFI1   EXOSC10   FAM131C   FBLIM1   FBXO2   FBXO42   FBXO44   FBXO6   FHAD1   GPR157   H6PD   HNRNPCL1   HNRNPCL2   HNRNPCL3   HNRNPCL4   HSPB7   KAZN   KAZN-AS1   KIAA2013   KIF1B   LINC01647   LINC01714   LINC01772   LINC01783   LINC01784   LNCTAM34A   LRRC38   LZIC   MAD2L2   MASP2   MFAP2   MFN2   MIIP   MIR34A   MIR34AHG   MIR3675   MIR3972   MIR4632   MIR5697   MIR6728   MIR6729   MIR6730   MIR7846   MST1L   MTHFR   MTOR   MTOR-AS1   NBPF1   NECAP2   NMNAT1   NPPA   NPPA-AS1   NPPB   PADI1   PADI2   PADI3   PADI4   PARK7   PDPN   PER3   PEX14   PGD   PIK3CD   PIK3CD-AS1   PIK3CD-AS2   PLEKHM2   PLOD1   PRAMEF1   PRAMEF10   PRAMEF11   PRAMEF12   PRAMEF13   PRAMEF14   PRAMEF15   PRAMEF17   PRAMEF18   PRAMEF19   PRAMEF2   PRAMEF20   PRAMEF25   PRAMEF26   PRAMEF27   PRAMEF33   PRAMEF4   PRAMEF5   PRAMEF6   PRAMEF7   PRAMEF8   PRAMEF9   PRDM2   RBP7   RERE   RNU1-1   RNU1-2   RNU1-3   RNU1-4   RNU5E-1   RSC1A1   SDHB   SLC25A33   SLC25A34   SLC2A5   SLC2A7   SLC45A1   SNORA59A   SNORD128   SPATA21   SPEN   SPSB1   SRARP   SRM   SZRD1   TARDBP   TMEM201   TMEM51   TMEM51-AS1   TMEM82   TNFRSF1B   TNFRSF8   TNFRSF9   TRE-TTC3-1   TRG-CCC1-2   TRG-CCC5-1   TRN-GTT13-1   TRN-GTT4-1   TRNAG1   TRQ-CTG14-1   UBE4B   UBIAD1   UQCRHL   UTS2   VAMP3   VPS13D   ZBTB17  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_6853513)_(17326813_?)dup
NC_000001.10:g.(?_6913573)_(17685411_?)dup
NC_000001.9:g.(?_6836160)_(17557998_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3816,853,513 - 17,326,813 (+)CLINVAR
GRCh3716,913,573 - 17,685,411CLINVAR
Build 3616,836,160 - 17,557,998CLINVAR
Cytogenetic Map11p36.31-36.13CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
CRRD Object Information
CRRD ID: 8618807
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.