Transcript #00024041 (NM_133433.3, NIPBL gene)

Transcript name transcript variant A
Gene name NIPBL (Nipped-B homolog (Drosophila))
Chromosome 5
Transcript - NCBI ID NM_133433.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_597677.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

475 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/PolyPhenScore     
+/. _1_47_ c.(?_-481)_(*927_?)del r.(?) p.0? -
+/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?) -
+/. 1 c.-316_-315delinsA r.-316_-315delinsa p.(?) -
+/. 1 c.-94C>T r.(?) p.(?) -
+/. 1i c.-79-2A>G r.spl p.? -
+/. 10 c.(3071C>?) r.(?) p.(Ser1024*) -
+/. 18 c.(4193C>?) r.(?) p.(Ser1398*) -
+/. 30i_47_ c.(5710-?)_(*927_?)del r.(?) p.(?) -
+/. 31 c.5721_5725de r.(?) p.(Glu1908Ilefs*13) -
+/. 2 c.2T>A r.(?) p.(Met1?) -
+/. 2 c.2T>A r.(?) p.(Met1?) -
+/. 2 c.2T>A r.(?) p.(Met1?) -
+/. - c.3G>T r.(?) p.(Met1?) -
+/. 2 c.13_14dup r.(?) p.(Met5Ilefs*20) -
+/. 2 c.43G>A r.(?) p.(Gly15Arg) -
+/. 2 c.43G>A r.(?) p.Gly15Arg -
+/. 2i c.64+1G>A r.spl p.? -
+/. 2i c.64+1G>A r.spl p.? -
+/. 2i c.64+5G>A r.spl? p.? -
+/. 2i c.65-5A>G r.spl? p.? -
+/. 2i c.65-5A>G r.spl? p.? -
+/. 2i c.65-5A>G r.spl? p.(Leu22Hisfs*23) -
+/. 2i c.65-5A>G r.spl? p.? -
+/. 2i c.65-5A>G r.spl? p.? -
+/. 3 c.70_79del r.70_79delAACCAGCTG p.(Asn24_Leu26del) -
+/. 3 c.86C>A r.(?) p.(Pro29Gln) -
+/. 3 c.86C>A r.(?) p.(Pro29Gln) -
+/. 3 c.86C>A r.(?) p.Pro29Gln -
+/. 3 c.86del r.(?) p.(Pro29Hisfs*18) -
+/. 3 c.95del r.(?) p.(Leu32Tyrfs*15) -
+/. 3 c.133C>T r.(?) p.(Arg45*) -
+/. 3 c.150del r.(?) p.(Asn51Thrfs*27) -
-?/. - c.179A>G r.(?) p.(Asn60Ser) -
+?/. 3 c.190C>T r.(?) p.(Gln64*) -
+/. 3 c.199_208delinsATCAACAGGTGAC r.(?) p.(His67Ilefs*4) -
-?/. 3 c.218C>T r.(?) p.(Ser72Leu) -
+/. 3i c.230+1G>A r.65_230del p.(Leu22Glnfs*3) -
-/. 3i c.230+61C>A r.(?) p.(=) -
+?/. 3i_4i c.(230+1_231-1)_(358+1_359-1)del r.? p.? -
-?/. 4 c.256G>A r.(?) p.(Asp86Asn) -
?/. 4 c.256G>A r.(?) p.(Asp86Asn) -
-?/. - c.294C>T r.(?) p.(Ala98=) -
?/. - c.313A>G r.(?) p.(Asn105Asp) -
+/. 4 c.332G>C r.(?) p.(Ser111Thr) -
-?/. 4 c.332G>C r.(?) p.Ser111Thr -
+/. 4 c.347dup r.(?) p.(Tyr116*) -
+?/. 4i c.358+1G>A r.231_358del p.(Ile77Metfs*5) -
+?/. 4i c.358+1G>A r.231_358del p.(Ile77Metfs*5) -
+?/. 4i c.358+3G>T r.spl? p.? -
+?/. - c.358+5G>C r.spl? p.? -
+/. 5i c.(415_416insTTAT) r.(?) p.(Ser139Phefs*13) -
+/. - c.430C>T r.(?) p.(Gln144Ter) -
+?/. 5i c.459-9G>A r.spl? p.(=) -
+/. 6 c.460del r.(?) p.(Arg154Glyfs*62) -
?/. - c.507G>T r.(?) p.(Gln169His) -
?/. - c.507G>T r.(?) p.(Gln169His) -
+/. 6 c.513dup r.(?) p.(Ser172*) -
+/. 6 c.513dup r.(?) p.(Ser172*) -
+/. 6 c.535G>A r.(?) p.(Ala179Thr) -
-?/. - c.535G>A r.(?) p.(Ala179Thr) -
-?/. 6 c.535G>A r.(?) p.Ala179Thr -
-?/. - c.535G>A r.(?) p.(Ala179Thr) -
+/. 6 c.575C>T r.(?) p.(Pro192Leu) -
?/. 6 c.575C>T r.(?) p.Pro192Leu -
+/. - c.598C>T r.(?) p.(Gln200*) -
+/. - c.610+1G>A r.spl? p.? -
+/. 6i c.610+5G>C r.spl? p.? -
+/. 6i c.611-6T>C r.spl? p.(=) -
+/. 6i c.611-6T>C r.spl? p.(=) -
+/. 6i c.611-2A>G r.spl p.? -
+/. 6i c.611-2A>G r.spl p.? -
+/. 7 c.737A>G r.(?) p.(Asp246Gly) -
+/. 7 c.737A>G r.(?) p.(Asp246Gly) -
-?/. 7 c.737A>G r.(?) p.Asp246Gly -
+/. 7 c.742_743del r.(?) p.(Leu248Thrfs*8) -
+/. 7 c.760C>G r.(?) p.(Leu254Val) -
-?/. 7 c.760C>G r.(?) p.Leu254Val -
+/. 7i c.771+1G>C r.(751_771del) p.(Val251_Asp257del) 0.000
+/. 8 c.781T>G r.(?) p.(Ser262Ala) -
-?/. - c.781T>G r.(?) p.(Ser261Ala) -
-?/. 8 c.781T>G r.(?) p.Ser262Ala -
?/. - c.784T>C r.(?) p.(Ser262Pro) -
?/. - c.802G>A r.(?) p.(Ala268Thr) -
+/. 8 c.826C>T r.(?) p.(Gln276*) -
-?/. - c.834A>G r.(?) p.(Val278=) -
-?/. - c.839C>T r.(?) p.(Ser280Phe) -
+/. 8i c.868+1G>A r.spl p.? -
+?/. 8i c.869-2A>G r.869_1495del p.(Gly290_Lys498del) -
+?/. 8i c.869-2A>G r.869_1495del p.(Gly290_Lys498del) -
+/. 9 c.889dup r.(?) p.(Leu297Profs*39) -
?/. - c.940A>G r.(?) p.(Ile314Val) -
+/. 9 c.961del r.(?) p.(Arg321Glufs*9) -
+/. 9 c.998del r.(?) p.(Lys333Argfs*15) -
+/. 9 c.1011del r.(?) p.(Glu337Aspfs*11) -
-/. 9 c.1151A>G r.(?) p.(Asn384Ser) -
+?/. - c.1237C>T r.(?) p.(Pro413Ser) -
+/. 9 c.1275_1278del r.(?) p.(Thr426Hisfs*54) -
-?/. - c.1321A>G r.(?) p.(Thr441Ala) -
+/. 9 c.(1435C>T) r.(?) p.(Arg479*) -
+/. 9 c.1445_1448del r.(?) p.(Arg482Asnfs*20) -
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