Transcript #00019423

Transcript name transcript variant 1
Gene name SMARCB1 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1)
Chromosome 22
Transcript - NCBI ID NM_003073.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003064.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

393 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.? p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
?/. - c.? - r.(?) p.?
+/. _1_9_ c.(?_-2108969)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-2108969)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-691475)_(*1_?)del - r.0 p.0
?/. 1 c.(?_-207)_(93+1_94-1)del - r.spl? p.?
?/. 1 c.(?_-207)_(93+1_94-1)del - r.spl? p.?
?/. 1_2i c.(?_-207)_(232+1_233-1)del - r.? p.?
?/. 1_5i c.(?_-207)_(628+1_629-1)del - r.? p.?
?/. 1_5i c.(?_-207)_(628+1_629-1)del - r.? p.?
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.?
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.?
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.?
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.?
?/. _1_9_ c.(?_-207)_(*338_?)del - r.(?) p.?
?/. - c.-22G>C VUS r.(=) p.(=)
+/. _1_5i c.(?_-1)_(628+1_629-1)del - r.0? p.0?
?/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
?/. 1 c.20_43delinsT - r.(?) p.(Ser7Ilefs*56)
?/. 1 c.30del - r.(?) p.(Phe10Leufs*6)
+/. - c.30del pathogenic r.(?) p.(Phe10Leufs*6)
+?/. - c.31G>A likely pathogenic r.(?) p.(Gly11Arg)
?/. 1 c.34C>T - r.(?) p.(Gln12*)
?/. 1 c.34C>T - r.(?) p.(Gln12*)
?/. 1 c.34C>T - r.(?) p.(Gln12*)
+/. - c.34C>T pathogenic r.(?) p.(Gln12*)
?/. 1 c.38delA - r.(?) p.(Lys13Serfs*3)
?/. 1 c.40C>T - r.(?) p.(Pro14Ser)
?/. 1 c.41C>A - r.(?) p.(Pro14His)
?/. 1 c.41C>A - r.(?) p.(Pro14His)
?/. 1 c.41C>A - r.(?) p.(Pro14His)
?/. 1 c.41C>A - r.(?) p.(Pro14His)
?/. 1 c.41C>A - r.(?) p.(Pro14His)
?/. 1 c.41C>A - r.(?) p.(Pro14His)
?/. 1 c.41C>A - r.(?) p.(Pro14His)
?/. 1 c.46A>T - r.(?) p.(Lys16*)
?/. - c.84C>G - r.(?) p.Ile28Met
?/. 1 c.86_91del - r.(?) p.(Gly29_Ser30del)
?/. 1 c.86_91del - r.(?) p.(Gly29_Ser30del)
?/. 1 c.86_91del - r.(?) p.(Gly29_Ser30del)
?/. 1 c.92A>T - r.(?) p.(Glu31Val)
?/. 1 c.92A>T - r.(?) p.(Glu31Val)
?/. 1 c.92A>T - r.(?) p.(Glu31Val)
?/. 1 c.92A>T - r.(?) p.(Glu31Val)
?/. 1 c.92A>T - r.(?) p.(Glu31Val)
?/. 1 c.92A>T - r.(?) p.(Glu31Val)
?/. 1 c.93G>C - r.(?) p.(Glu31Asp)
?/. 1 c.93G>C - r.(?) p.(Glu31Asp)
-/. - c.93+115_93+116insGCGC benign r.(=) p.(=)
-/. - c.93+117_93+118insTC benign r.(=) p.(=)
-/. - c.93+119_93+120del benign r.(=) p.(=)
+/. 1i c.93+559A>G - r.93_94ins93+483_93+554 p.Val32fs
?/. 1i_2i c.(93+1_94-1)_(232+1_233-1)del - r.spl? p.?
+/. 1i_9_ c.(93+1_94-1)_(*1_?)del - r.? p.?
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