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Variant : CV73536 (GRCh38/hg38 20p13(chr20:89939-975656)x1) Homo sapiens

Symbol: CV73536
Name: GRCh38/hg38 20p13(chr20:89939-975656)x1
Condition: See cases [RCV000052733]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by single submitter|criteria provided, multiple submitters, no conflicts|criteria provided, single submitter|no assertion criteria provided
Related Genes: ANGPT4   C20orf96   CSNK2A1   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   FAM110A   NRSN2   NRSN2-AS1   RBCK1   RSPO4   SCRT2   SLC52A3   SOX12   SRXN1   TBC1D20   TCF15   TRIB3   ZCCHC3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_89939)_(975656_?)del
NC_000020.10:g.(?_70580)_(956299_?)del
NC_000020.9:g.(?_18580)_(904299_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382089,939 - 975,656CLINVAR
GRCh372070,580 - 956,299CLINVAR
Build 362018,580 - 904,299CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619708
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE



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