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Variant : CV155836 (GRCh38/hg38 20p13(chr20:89939-364235)x1) Homo sapiens

Symbol: CV155836
Name: GRCh38/hg38 20p13(chr20:89939-364235)x1
Condition: See cases [RCV000135411]
Clinical Significance: pathogenic
Last Evaluated: 07/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: C20orf96   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   NRSN2   NRSN2-AS1   SOX12   ZCCHC3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_89939)_(364235_?)del
NC_000020.10:g.(?_70580)_(344879_?)del
NC_000020.9:g.(?_18580)_(292879_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382089,939 - 364,235CLINVAR
GRCh372070,580 - 344,879CLINVAR
Build 362018,580 - 292,879CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482984
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.