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Variant : CV550817 (Single allele) Homo sapiens

Symbol: CV550817
Name: Single allele
Condition: not provided [RCV000677978]
Clinical Significance: pathogenic
Last Evaluated: 03/19/2018
Review Status: criteria provided, single submitter
Related Genes: ABHD12   ACSS1   APMAP   ASXL1   BANF2   BCL2L1   BPIFB2   C20orf203   CCM2L   CD93   CFAP61   COMMD7   COX4I2   CRNKL1   CST1   CST11   CST2   CST3   CST4   CST5   CST7   CST8   CST9   CST9L   CSTL1   DEFB115   DEFB116   DEFB118   DEFB119   DEFB121   DEFB123   DEFB124   DNMT3B   DTD1   DUSP15   DZANK1   EFCAB8   ENTPD6   FOXA2   FOXS1   GGTLC1   GINS1   GZF1   HCK   HM13   ID1   INSM1   KAT14   KIF3B   KIZ   LINC01597   MAPRE1   MGME1   MYLK2   NAA20   NANP   NAPB   NINL   NKX2-2   NKX2-4   NOL4L   NXT1   OVOL2   PAX1   PDRG1   PET117   PLAGL2   POFUT1   POLR3F   PYGB   RALGAPA2   RBBP9   REM1   RIN2   SCP2D1   SCP2D1-AS1   SEC23B   SLC24A3   SNX5   SSTR4   SUN5   SYNDIG1   THBD   TM9SF4   TPX2   TTLL9   VSX1   XKR7   XRN2   ZNF133   ZNF337  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: provider interpretation
Position
Human AssemblyChrPosition (strand)Source
GRCh372017,705,775 - 31,600,738CLINVAR
Cytogenetic Map2020p12.1-q11.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13790641
Created: 2018-09-11
Species: Homo sapiens
Last Modified: 2020-06-23
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.