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Variant : CV73484 (GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1) Homo sapiens

Symbol: CV73484
Name: GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052679]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052679]|See cases [RCV000052679]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACCS   ACCSL   ALKBH3   ALKBH3-AS1   ALX4   AMBRA1   API5   ARHGAP1   ATG13   C11orf49   C11orf94   C11orf96   CD82   CHRM4   CHST1   CKAP5   COMMD9   CREB3L1   CRY2   DGKZ   EXT2   F2   HARBI1   HSD17B12   IFTAP   LARGE2   LDLRAD3   LINC01493   LINC01499   LINC02489   LINC02685   LINC02687   LINC02690   LINC02696   LINC02704   LINC02710   LINC02716   LINC02740   LINC02741   LINC02745   LINC02759   LINC02760   LRP4   LRP4-AS1   LRRC4C   MAPK8IP1   MDK   MIR129-2   MIR3160-1   MIR3160-2   MIR3973   MIR4688   MIR5582   MIR670   MIR670HG   MIR7154   PEX16   PHF21A   PRDM11   PRR5L   RAG1   RAG2   SLC35C1   SNORD67   SYT13   TP53I11   TRAF6   TRIM44   TSPAN18   TTC17   ZNF408  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_35663578)_(46959820_?)del
NC_000011.9:g.(?_35685126)_(46981371_?)del
NC_000011.8:g.(?_35641702)_(46937947_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh381135,663,578 - 46,959,820CLINVAR
GRCh371135,685,126 - 46,981,371CLINVAR
Build 361135,641,702 - 46,937,947CLINVAR
Cytogenetic Map1111p13-11.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619654
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-02-11
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.