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Variant : CV43930 (GRCh38/hg38 20p13(chr20:89939-1852477)x1) Homo sapiens

Symbol: CV43930
Name: GRCh38/hg38 20p13(chr20:89939-1852477)x1
Condition: Cleft palate, isolated [RCV000050373]|See cases [RCV000050373]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by multiple submitters|classified by 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)
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_89939)_(1852477_?)del
Human AssemblyChrPosition (strand)Source
GRCh382089,939 - 1,852,477CLINVAR
GRCh372070,580 - 1,833,123CLINVAR
Build 362018,580 - 1,781,123CLINVAR
Cytogenetic Map2020p13CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8617626
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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