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Variant : CV73538 (GRCh38/hg38 20p13(chr20:89939-1770567)x1) Homo sapiens

Symbol: CV73538
Name: GRCh38/hg38 20p13(chr20:89939-1770567)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052736]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052736]|See cases [RCV000052736]
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   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)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_89939)_(1770567_?)del
NC_000020.10:g.(?_70580)_(1751213_?)del
NC_000020.9:g.(?_18580)_(1699213_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382089,939 - 1,770,567CLINVAR
GRCh372070,580 - 1,751,213CLINVAR
Build 362018,580 - 1,699,213CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619710
Created: 2014-05-13
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.