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

Variant : CV71783 (GRCh38/hg38 20p13(chr20:89939-1360110)x1) Homo sapiens

Symbol: CV71783
Name: GRCh38/hg38 20p13(chr20:89939-1360110)x1
Condition: Global developmental delay [RCV000050841]|See cases [RCV000050841]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANGPT4   C20orf202   C20orf96   CSNK2A1   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   FAM110A   FKBP1A-SDCBP2   NRSN2   NRSN2-AS1   PSMF1   RAD21L1   RBCK1   RSPO4   SCRT2   SDCBP2   SDCBP2-AS1   SLC52A3   SNPH   SOX12   SRXN1   TBC1D20   TCF15   TMEM74B   TRIB3   ZCCHC3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_89939)_(1360110_?)del
NC_000020.10:g.(?_70580)_(1340754_?)del
NC_000020.9:g.(?_18580)_(1288754_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382089,939 - 1,360,110CLINVAR
GRCh372070,580 - 1,340,754CLINVAR
Build 362018,580 - 1,288,754CLINVAR
Cytogenetic Map2020p13CLINVAR
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: 8617911
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE



NHLBI Logo

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