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Variant : CV74350 (GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3) Homo sapiens

Symbol: CV74350
Name: GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3
Condition: Global developmental delay [RCV000053621]|See cases [RCV000053621]
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   CSKMT   EEF1G   EML3   GANAB   GNG3   HNRNPUL2   HNRNPUL2-BSCL2   INTS5   LBHD1   LRRN4CL   MIR6514   MIR6747   MIR6748   MTA2   NXF1   POLR2G   ROM1   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)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_62452571)_(62862781_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381162,452,571 - 62,862,781CLINVAR
GRCh371162,220,043 - 62,630,253CLINVAR
Build 361161,976,619 - 62,386,829CLINVAR
Cytogenetic Map1111q12.3CLINVAR
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
CRRD Object Information
CRRD ID: 8620540
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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