Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV74349 (GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3) Homo sapiens

Symbol: CV74349
Name: GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053620]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053620]|See cases [RCV000053620]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AHNAK   B3GAT3   BSCL2   C11orf98   CHRM1   CSKMT   EEF1G   EML3   GANAB   GNG3   HNRNPUL2   HNRNPUL2-BSCL2   INTS5   LBHD1   LRRN4CL   MIR6514   MIR6747   MIR6748   MTA2   NXF1   POLR2G   ROM1   SLC22A24   SLC22A6   SLC22A8   SLC3A2   SNHG1   SNORA57   SNORD22   SNORD25   SNORD26   SNORD27   SNORD28   SNORD29   SNORD30   SNORD31   STX5   TAF6L   TMEM179B   TMEM223   TTC9C   TUT1   UBXN1   UQCC3   WDR74   ZBTB3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_62433886)_(63096003_?)dup
NC_000011.9:g.(?_62201358)_(62863475_?)dup
NC_000011.8:g.(?_61957934)_(62620051_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381162,433,886 - 63,096,003CLINVAR
GRCh371162,201,358 - 62,863,475CLINVAR
Build 361161,957,934 - 62,620,051CLINVAR
Cytogenetic Map1111q12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620539
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.