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Variant : CV74516 (GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3) Homo sapiens

Symbol: CV74516
Name: GRCh38/hg38 13q32.3-34(chr13:99472316-114293545)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053792]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053792]|See cases [RCV000053792]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABHD13   ADPRHL1   ANKRD10   ANKRD10-IT1   ARGLU1   ARHGEF7   ARHGEF7-AS1   ARHGEF7-AS2   ATP11A   ATP11A-AS1   ATP11AUN   ATP4B   BIVM   BIVM-ERCC5   C13orf46   CARS2   CCDC168   CDC16   CFAP97D2   CLYBL   CLYBL-AS1   CLYBL-AS2   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   CUL4A   DAOA   DAOA-AS1   DCUN1D2   EFNB2   ERCC5   F10   F10-AS1   F7   FAM155A   FAM155A-IT1   FGF14   FGF14-AS1   FGF14-AS2   FGF14-IT1   GAS6   GAS6-AS1   GAS6-DT   GGACT   GRK1   GRTP1   GRTP1-AS1   ING1   IRS2   ITGBL1   LAMP1   LIG4   LINC00343   LINC00346   LINC00354   LINC00368   LINC00370   LINC00396   LINC00399   LINC00411   LINC00431   LINC00443   LINC00449   LINC00452   LINC00454   LINC00460   LINC00551   LINC00552   LINC00554   LINC00565   LINC00567   LINC00676   LINC01039   LINC01043   LINC01044   LINC01070   LINC01232   LINC01309   LINC02337   LOC101928841   MCF2L   MCF2L-AS1   METTL21C   MIR1267   MIR2681   MIR4306   MIR4502   MIR4705   MIR548AR   MIR8073   MIR8075   MYO16   MYO16-AS1   NALCN   NALCN-AS1   NAXD   PCCA   PCCA-AS1   PCCA-DT   PCID2   POGLUT2   PROZ   RAB20   RASA3   SLC10A2   SNORD31B   SOX1   SOX1-OT   SPACA7   TEX29   TEX30   TFDP1   TM9SF2   TMCO3   TMEM255B   TMTC4   TNFSF13B   TPP2   TUBGCP3   UPF3A   ZIC2   ZIC5  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_99472316)_(114293545_?)dup
NC_000013.10:g.(?_100124570)_(115059020_?)dup
NC_000013.9:g.(?_98922571)_(114077122_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381399,472,316 - 114,293,545CLINVAR
GRCh3713100,124,570 - 115,059,020CLINVAR
Build 361398,922,571 - 114,077,122CLINVAR
Cytogenetic Map1313q32.3-34CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620707
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-12-03
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.