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Variant : CV73225 (GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3) Homo sapiens

Symbol: CV73225
Name: GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3
Condition: Global developmental delay [RCV000052405]|See cases [RCV000052405]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AARS1   ACD   ADGRG1   ADGRG3   ADGRG5   AGRP   ARL2BP   ATP6V0D1   B3GNT9   BEAN1   BEAN1-AS1   C16orf70   C16orf86   CA7   CARMIL2   CBFB   CCDC102A   CCDC113   CCL17   CCL22   CDH1   CDH11   CDH16   CDH3   CDH5   CDH8   CENPT   CES2   CES3   CES4A   CETP   CFAP20   CHTF8   CIAO2B   CIAPIN1   CKLF   CKLF-CMTM1   CLEC18A   CLEC18C   CMTM1   CMTM2   CMTM3   CMTM4   CNGB1   CNOT1   COG4   COG8   COQ9   CPNE2   CSNK2A2   CTCF   CTRL   CX3CL1   CYB5B   DDX19A   DDX19B   DDX28   DERPC   DOK4   DPEP2   DPEP2NB   DPEP3   DRC7   DUS2   DYNC1LI2   E2F4   EDC4   ELMO3   ENKD1   ESRP2   EXOC3L1   EXOSC6   FBXL8   FCSK   FHOD1   GFOD2   GINS3   GOT2   HAS3   HERPUD1   HSD11B2   HSF4   HYDIN   IL34   KATNB1   KCTD19   KIAA0895L   KIFC3   LCAT   LINC00920   LINC00922   LINC02126   LINC02137   LINC02141   LRRC29   LRRC36   MIR140   MIR1538   MIR1972-2   MIR328   MIR6772   MIR6773   MIR6863   MMP15   MTSS2   NAE1   NDRG4   NFAT5   NFATC3   NIP7   NLRC5   NOB1   NOL3   NPAP1L   NQO1   NRN1L   NUTF2   PARD6A   PDF   PDP2   PDPR   PLA2G15   PLEKHG4   PLLP   POLR2C   PRMT7   PRSS54   PSKH1   PSMB10   PSME3IP1   RANBP10   RIPOR1   RRAD   RSPRY1   SETD6   SF3B3   SLC12A3   SLC12A4   SLC38A7   SLC7A6   SLC7A6OS   SLC9A5   SMPD3   SNORA46   SNORA50A   SNORD111   SNORD111B   SNORD13H   SNTB2   ST3GAL2   TANGO6   TEPP   TERB1   TERF2   THAP11   TK2   TMED6   TMEM208   TPPP3   TRADD   TRG-GCC2-4   TRG-GCC2-5   TRG-GCC3-1   TRG-GCC5-1   TRL-CAG2-1   TRL-CAG2-2   TSNAXIP1   USB1   UTP4   VAC14   VAC14-AS1   VPS4A   WWP2   ZDHHC1   ZFP90   ZNF319  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_56883592)_(71279975_?)dup
NC_000016.9:g.(?_56917504)_(71313878_?)dup
NC_000016.8:g.(?_55475005)_(69871379_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381656,883,592 - 71,279,975CLINVAR
GRCh371656,917,504 - 71,313,878CLINVAR
Build 361655,475,005 - 69,871,379CLINVAR
Cytogenetic Map1616q13-22.2CLINVAR
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: 8619393
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.