Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73537 (GRCh38/hg38 20p13(chr20:89939-1939218)x1) Homo sapiens

Symbol: CV73537
Name: GRCh38/hg38 20p13(chr20:89939-1939218)x1
Condition: Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052735]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052735]|See cases [RCV000052735]
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   SIRPA   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)_(1939218_?)del
NC_000020.10:g.(?_70580)_(1919864_?)del
NC_000020.9:g.(?_18580)_(1867864_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382089,939 - 1,939,218CLINVAR
GRCh372070,580 - 1,919,864CLINVAR
Build 362018,580 - 1,867,864CLINVAR
Cytogenetic Map2020p13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619709
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

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