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Variant : CV154853 (GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3) Homo sapiens

Symbol: CV154853
Name: GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3
Condition: See cases [RCV000134504]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABALON   AL034550.2   ASXL1   BCL2L1   BCL2L1-AS1   CCM2L   COX4I2   DEFB115   DEFB116   DEFB118   DEFB119   DEFB121   DEFB123   DEFB124   DUSP15   FOXS1   HCK   HM13   HM13-AS1   ID1   KIF3B   LINC00028   LOC110120877   LOC110121477   LOC110121497   LOC112694700   LOC112694701   LOC112694702   LOC112694703   LOC116286204   LOC116286205   MIR1825   MIR3193   MYLK2   NOL4L   PDRG1   PLAGL2   POFUT1   REM1   TM9SF4   TPX2   TTLL9   XKR7  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_31254983)_(32575288_?)dup
NC_000020.10:g.(?_29842786)_(31163090_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382031,254,983 - 32,575,288CLINVAR
GRCh372029,842,786 - 31,163,090CLINVAR
Build 362029,306,447 - 30,626,751CLINVAR
Cytogenetic Map2020q11.21CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9482084
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
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.