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Variant : CV380643 (GRCh37/hg19 20p13(chr20:121521-2073612)x1) Homo sapiens

Symbol: CV380643
Name: GRCh37/hg19 20p13(chr20:121521-2073612)x1
Condition: See cases [RCV000446640]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ANGPT4   C20orf202   C20orf96   CSNK2A1   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   FAM110A   FKBP1A   NRSN2   NSFL1C   PDYN   PSMF1   RAD21L1   RBCK1   RSPO4   SCRT2   SDCBP2   SIRPA   SIRPB1   SIRPB2   SIRPD   SIRPG   SLC52A3   SNPH   SOX12   SRXN1   TBC1D20   TCF15   TMEM74B   TRIB3   ZCCHC3  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3720121,521 - 2,073,612CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12851363
Created: 2017-04-11
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.