Transcript #00000084 (NM_000214.2, JAG1 gene)

Transcript name jagged 1
Gene name JAG1 (jagged 1)
Chromosome 20
Transcript - NCBI ID NM_000214.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000205.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1284 entries on 13 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. 8i_26_ c.(1120+1_1121-1)_*1814{0} r.? p.?
+/. 5i_26_ c.(755+1_756-1)_*1814{0} r.? p.?
+/. _1i_26_ c.(81+1_82-1)_*1814{0} r.? p.?
+/. _1_5i c.-516_(755+1_756-1){0} r.0? p.0?
+/. _1_1i c.-516_(81+1_82-1){0} r.0? p.0?
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. - c.765C>R r.(?) p.(Tyr255*)
+/. - c.770^771G>A r.(?) p.(Trp257*)
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_2i c.516_387+1662{0} r.0? p.0?
+/. _1_2i c.-516_(387+1_388-1){0} r.0? p.0?
+/. _1_2i c.-516_(387+1_388-1){0} r.0? p.0?
+/. _1_23i c.-516_(2916+1_2917-1){0} r.0? p.0?
+/. _1_25i c.-516_(3199+1_3200-1){2} r.? p.?
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. 1_1i c.-119_82-38del r.0? p.0?
?/. - c.-100C>T r.(?) p.(=)
+/. _1_26_ c.(?_-97)_(*170_?)del r.0 p.0
+/. 1 c.-26_9del r.(?) p.0?
?/. - - r.(?) p.(=)
?/. _1_26_ - r.(?) p.(=)
+/. _1_2i c.-516_(387+1_388-1){0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_26_ c.-516_*1814{0} r.0 p.0
+/. _1_3i c.-518_(439+768_?){1} r.? p.?
?/. - c.? r.? p.?
?/. - c.? r.? p.?
+/. - c.3G>A r.(?) p.0?
+/. 1 c.3_4delinsTT r.(?) p.0?
+/. 1 c.3_4delinsTT r.(?) p.0?
+/. 1 c.11dup r.(?) p.(Arg5Thrfs*68)
+/. - c.30_36delinsACTCGGGA r.30_36delinsacucggga p.Gly11Leufs*62
+/. 1 c.30_36delinsACTCGGGA r.(?) p.(Gly11Leufs*62)
+/. 1 c.40del r.(?) p.(Leu14*)
+/. 1 c.41del r.(?) p.(Leu14Glnfs*32)
+/. 1 c.50T>C r.(?) p.(Leu17Pro)
+/. 1 c.53_73del r.(?) p.(Leu18_Leu24del)
+/. - c.53_73del r.(?) p.(Leu18_Leu24del)
+/. 1 c.59T>C r.(?) p.(Leu20Pro)
+/. 1 c.59T>C r.(?) p.(Leu20Pro)
+?/. 1 c.59T>G r.(?) p.(Leu20Arg)
+/. - c.59T>G r.(?) p.(Leu20Arg)
+?/. 1 c.63_74del r.(?) p.(Cys22_Arg25del)
+?/. 1 c.64T>C r.(?) p.(Cys22Arg)
+/. 1 c.65del r.(?) p.(Cys22Leufs*24)
+/. 1 c.66_67del r.(?) p.(Ala23Profs*49)
+/. - c.68_69delinsG r.(?) p.(Ala23GlyfsTer23)
+/. 1 c.70del r.(?) p.(Leu24Cysfs*22)
+/. 1 c.73C>T r.(?) p.(Arg25*)
+/. 1 c.73_81+3del r.spl p.?
+/. - c.81+1G>A r.spl p.?
+/. - c.82-7_96del r.spl p.?
+/. - c.82-6C>A r.81_82insgcag p.?
+/. - c.82-2A>G r.spl p.?
+/. 2 c.84del r.(?) p.(Cys29Valfs*17)
+/. 2 c.92C>T r.(?) p.(Ala31Val)
+/. 2 c.97G>A r.(?) p.(Gly33Ser)
+/. 2 c.97G>C r.(?) p.(Gly33Arg)
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