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

Symbol: CV71783
Name: GRCh38/hg38 20p13(chr20:89939-1360110)x1
Condition: 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: AL110114.1   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)
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_89939)_(1360110_?)del
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
RGD Object Information
RGD ID: 8617911
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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