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Variant : CV72659 (GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4) Homo sapiens

Symbol: CV72659
Name: GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADD1   ADRA2C   C4orf48   CFAP99   CYTL1   DOK7   FAM193A   FAM53A   FGFR3   GRK4   HAUS3   HGFAC   HTT   HTT-AS   LETM1   LINC00955   LINC01396   LINC02171   LRPAP1   LYAR   MFSD10   MIR4800   MIR943   MSANTD1   MSX1   MXD4   NAT8L   NELFA   NOP14   NOP14-AS1   NSD2   NSG1   OTOP1   POLN   RGS12   RNF4   SCARNA22   SH3BP2   SLBP   STK32B   STX18   STX18-AS1   STX18-IT1   TACC3   TMEM128   TMEM129   TNIP2   ZBTB49   ZFYVE28  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_1676799)_(5212384_?)dup
NC_000004.11:g.(?_1678526)_(5214111_?)dup
NC_000004.10:g.(?_1648324)_(5265012_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3841,676,799 - 5,212,384CLINVAR
GRCh3741,678,526 - 5,214,111CLINVAR
Build 3641,648,324 - 5,265,012CLINVAR
Cytogenetic Map44p16.3-16.2CLINVAR
Trait Synonyms: multiple congenital anomalies; unexplained developmental delay/intellectual disability




Additional Information

 
RGD Object Information
RGD ID: 8618819
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.