All variants in the NONO gene

Information The variants shown are described using the NM_007363.4 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. - c.47C>G r.(?) p.(Pro16Arg) - VUS g.70510534C>G g.71290684C>G - - NONO_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.457C>T r.(?) p.(Arg153Ter) - likely pathogenic g.70514185C>T g.71294335C>T - - NONO_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.775C>T r.(?) p.(Gln259Ter) - likely pathogenic g.70516729C>T - - - ITGB1BP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.944-6T>G r.(=) p.(=) - VUS g.70517221T>G g.71297371T>G NONO(NM_001145408.1):c.944-6T>G (p.(=)) - NONO_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1119C>T r.(?) p.(Thr373=) - likely benign g.70517776C>T g.71297926C>T NONO(NM_001145408.1):c.1119C>T (p.T373=) - ITGB1BP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1132-73T>C r.(=) p.(=) - VUS g.70518246T>C g.71298396T>C - - NONO_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1132-73T>C r.(=) p.(=) - VUS g.70518246T>C g.71298396T>C - - NONO_000001 - - - - Germline - - - - - Yu Sun
-?/. - c.1210G>A r.(?) p.(Ala404Thr) - likely benign g.70518595G>A g.71298745G>A NONO(NM_001145408.1):c.1210G>A (p.A404T) - NONO_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1313C>T r.(?) p.(Ala438Val) - likely benign g.70519823C>T - NONO(NM_001145408.1):c.1313C>T (p.A438V) - ITGB1BP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*311del r.(=) p.(=) - VUS g.70520237del g.71300387del - - NONO_000006 - - - - Germline - - - - - Yu Sun
?/. - c.*325dup r.(=) p.(=) - VUS g.70520251dup g.71300401dup - - NONO_000005 - - - - Germline - - - - - Yu Sun
?/. - c.*1767C>T r.(=) p.(=) - VUS g.70521693C>T g.71301843C>T ITGB1BP2(NM_012278.1):c.37C>T (p.(His13Tyr)) - ITGB1BP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*2229T>G r.(=) p.(=) - VUS g.70522155T>G g.71302305T>G ITGB1BP2(NM_012278.1):c.143T>G (p.(Val48Gly)) - ITGB1BP2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.*3399A>T r.(=) p.(=) - VUS g.70523325A>T g.71303475A>T ITGB1BP2(NM_012278.3):c.427A>T (p.I143F) - ITGB1BP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3402C>T r.(=) p.(=) - likely benign g.70523328C>T g.71303478C>T ITGB1BP2(NM_012278.3):c.430C>T (p.R144W) - ITGB1BP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*4121C>T r.(=) p.(=) - VUS g.70524047C>T - ITGB1BP2(NM_012278.3):c.650C>T (p.S217F) - ITGB1BP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*4524G>T r.(=) p.(=) - VUS g.70524450G>T - ITGB1BP2(NM_012278.3):c.812G>T (p.W271L) - ITGB1BP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query