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Variant : CV165387 (GRCh38/hg38 20p13(chr20:80927-1806080)x1) Homo sapiens

Symbol: CV165387
Name: GRCh38/hg38 20p13(chr20:80927-1806080)x1
Condition: See cases [RCV000143700]
Clinical Significance: likely pathogenic|uncertain significance
Last Evaluated: 07/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AL110114.1   ANGPT4   C20orf202   C20orf96   CSNK2A1   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   FAM110A   FKBP1A   FKBP1A-SDCBP2   MIR6869   NRSN2   NRSN2-AS1   NSFL1C   PSMF1   RAD21L1   RBCK1   RSPO4   SCRT2   SDCBP2   SDCBP2-AS1   SIRPB1   SIRPB2   SIRPD   SIRPG   SIRPG-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.(?_80927)_(1806080_?)del
Human AssemblyChrPosition (strand)Source
GRCh382080,927 - 1,806,080CLINVAR
GRCh372061,568 - 1,786,726CLINVAR
Build 36209,568 - 1,734,726CLINVAR
Cytogenetic Map2020p13CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491298
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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