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Variant : CV384108 (GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3) Homo sapiens

Symbol: CV384108
Name: GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3
Condition: See cases [RCV000448977]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABHD12   ACSS1   APMAP   ASXL1   BCL2L1   BPIFA2   BPIFA3   BPIFB2   BPIFB3   BPIFB4   BPIFB6   C20orf203   CCM2L   COMMD7   COX4I2   CST7   DEFB115   DEFB116   DEFB118   DEFB119   DEFB121   DEFB123   DEFB124   DNMT3B   DUSP15   EFCAB8   ENTPD6   FOXS1   GINS1   HCK   HM13   ID1   KIF3B   LINC01597   MAPRE1   MYLK2   NANP   NINL   NOL4L   PDRG1   PLAGL2   POFUT1   PYGB   REM1   SUN5   SYNDIG1   TM9SF4   TPX2   TTLL9   VSX1   XKR7   ZNF337  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372024,162,775 - 31,820,857CLINVAR
Cytogenetic Map2020p11.21-q11.21CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12853677
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-07-07
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.