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Variant : CV73540 (GRCh38/hg38 20p13(chr20:121781-2290194)x1) Homo sapiens

Symbol: CV73540
Name: GRCh38/hg38 20p13(chr20:121781-2290194)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052738]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052738]|See cases [RCV000052738]
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   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   FAM110A   FKBP1A   FKBP1A-SDCBP2   MIR6869   NRSN2   NRSN2-AS1   NSFL1C   PDYN   PDYN-AS1   PSMF1   RAD21L1   RBCK1   RSPO4   SCRT2   SDCBP2   SDCBP2-AS1   SIRPA   SIRPB1   SIRPB2   SIRPD   SIRPG   SIRPG-AS1   SLC52A3   SNPH   SOX12   SRXN1   STK35   TBC1D20   TCF15   TMEM74B   TRIB3   ZCCHC3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_121781)_(2290194_?)del
NC_000020.10:g.(?_102422)_(2270840_?)del
NC_000020.9:g.(?_50422)_(2218840_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3820121,781 - 2,290,194CLINVAR
GRCh3720102,422 - 2,270,840CLINVAR
Build 362050,422 - 2,218,840CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619712
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-07
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.