Transcript #00023902

Transcript name transcript variant 1
Gene name USB1 (U6 snRNA biogenesis 1)
Chromosome 16
Transcript - NCBI ID NM_024598.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_078874.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+?/+? 2 c.176_177delGG - r.? p.(Gly59Alafs*2)
+/+ 2 c.179delC - r.(?) p.(Pro60Leufs*55)
+/+ 2 c.179delC - r.(?) p.(Pro60Leufs*55)
+?/+? 2 c.179delC - r.? p.(Pro60Leufs*55)
+?/+? 2 c.179delC - r.? p.(Pro60Leufs*55)
+?/+? 2 c.179delC - r.? p.(Pro60Leufs*55)
+/+ 2 c.232C>T - r.232c>u p.Arg78*
+/+ 2 c.232C>T - r.232c>u p.Arg78*
+?/+? 2 c.243G>A - r.? p.(Trp81*)
+?/+? 2 c.243G>A - r.? p.(Trp81*)
+?/+? 2 c.258T>A - r.? p.(Tyr86*)
+/+ 2i c.265+2T>G - r.spl p.(Tyr89Trpfs*3)
+/+ 2i c.265+2T>G - r.spl p.(Tyr89Trpfs*3)
+?/+? 2i c.266-1G>A - r.spl p.(Glu90Serfs*8)
+?/+? 3 c.267T>A - r.? p.(Tyr89*)
./. 3 c.334dupC - r.(?) p.(Arg112Profs*63)
+?/+? 3 c.415C>T - r.? p.(Gln139*)
+?/+? 3i c.450-2A>G - r.? p.?
+?/+? 4 c.489_492del4 - r.? p.(Asn163Lysfs*101)
+?/+? 4 c.496delA - r.? p.(Thr167Profs*98)
+/+ 4 c.502A>G - r.450_503del p.Phe151_Arg168del
+?/+? 4i c.504-2A>C - r.spl? p.?
+/+ 4i c.504-2A>C - r.504_609del p.Thr169Ilefs*61
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61)
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61)
+/+ 4i c.504-2A>C - r.504_609del p.Thr169Ilefs*61
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61)
+/+ 4i c.504-2A>C - r.(?) p.(Thr169Ilefs*61)
+?/+? 5 c.518T>G - r.(?) p.(Leu173Arg)
+/+ 5 c.531delA - r.531delA p.His179Metfs*86
+/+ 5 c.531delA - r.531delA p.His179Metfs*86
+/+ 5 c.531delA - r.531delA p.His179Metfs*86
+/+ 5 c.531delA - r.531delA p.His179Metfs*86
+?/+? 5 c.541C>T - r.? p.(Gln181*)
+?/+? 5 c.541C>T - r.? p.(Gln181*)
+?/+? 5i c.609+1G>A - r.spl? p.?
+?/+? 6 c.623A>G - r.? p.(His208Arg)
+?/+? 6 c.623A>G - r.? p.(His208Arg)
+?/+? 6 c.673C>T - r.? p.(Gln225*)
+/+ 6_6i c.683_693+1del - r.610_693del p.Asp204_Gln231del
+?/+? 6i c.693+1G>T - r.610_693del p.(Asp204_Gln231del)
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