Transcript #00019417

Transcript name transcript variant 1
Gene name SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)
Chromosome 9
Transcript - NCBI ID NM_003070.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003061.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

285 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.? - r.(?) p.(Glu852Asp)
?/. - c.? - r.(?) p.(Phe903Leu)
?/. - c.? - r.(?) p.(Gly881Arg)
?/. - c.? - r.(?) p.(Leu946Phe)
?/. - c.? - r.(?) p.(Ser1146Arg)
./. - c.-1811337_*6006260del - r.0? p.0?
?/? - c.-5G>A - r.(=) p.(=)
?/? - c.-5G>A - r.(=) p.(=)
?/? - c.-5G>A - r.(=) p.(=)
?/. - c.47C>T VUS r.(?) p.(Ser16Leu)
?/. - c.161C>T VUS r.(?) p.(Ser54Phe)
-?/. - c.335C>A likely benign r.(?) p.(Pro112Gln)
?/. - c.370C>T VUS r.(?) p.(His124Tyr)
?/. - c.511C>A VUS r.(?) p.(Pro171Thr)
-?/. - c.666A>G likely benign r.(?) p.(=)
?/. - c.668_669del VUS r.(?) p.(Gln223Profs*35)
?/? - c.683A>C - r.(?) p.(Gln228Pro)
?/? - c.683A>C - r.(?) p.(Gln228Pro)
-/. - c.685_686insCGC benign r.(?) p.(Gln228_Gln229insPro)
-?/. - c.693_707del likely benign r.(?) p.(Gln234_Gln238del)
-?/. - c.693_707del likely benign r.(?) p.(Gln234_Gln238del)
-?/. - c.699_707del likely benign r.(?) p.(Gln236_Gln238del)
-?/. - c.699_707del likely benign r.(?) p.(Gln236_Gln238del)
-?/. - c.699_707dup likely benign r.(?) p.(Gln236_Gln238dup)
-/. - c.699_707dup benign r.(?) p.(Gln236_Gln238dup)
-/. - c.699_707dup benign r.(?) p.(Gln236_Gln238dup)
-?/. - c.699_707dup likely benign r.(?) p.(Gln236_Gln238dup)
-?/. - c.702_707dup likely benign r.(?) p.(Gln237_Gln238dup)
-/. - c.702_707dup benign r.(?) p.(Gln237_Gln238dup)
-/. - c.702_707dup benign r.(?) p.(Gln237_Gln238dup)
-?/. - c.702_707dup likely benign r.(?) p.(Gln237_Gln238dup)
-/. - c.705_707del benign r.(?) p.(Gln238del)
-/. - c.705_707del benign r.(?) p.(Gln238del)
-/. - c.705_707del benign r.(?) p.(Gln238del)
?/. - c.705_707del VUS r.(?) p.(Gln238del)
-?/. - c.705_707del likely benign r.(?) p.(Gln238del)
-/. - c.705_707dup benign r.(?) p.(Gln238dup)
-/. - c.705_707dup benign r.(?) p.(Gln238dup)
-?/. - c.705_707dup likely benign r.(?) p.(Gln238dup)
-?/. - c.708A>G likely benign r.(?) p.(=)
?/? - c.716_724dup - r.(?) p.(Pro239_Gln241dup)
?/. - c.844G>A VUS r.(?) p.(Ala282Thr)
?/. - c.1018G>C VUS r.(?) p.(Val340Leu)
?/. - c.1282A>G VUS r.(?) p.(Met428Val)
./. - c.1514G>A - r.(?) p.(Arg505Gln)
?/? - c.1522-48T>C - r.(=) p.(=)
+/. - c.1573C>T pathogenic r.(?) p.(Arg525Cys)
./. - c.1573C>T - r.(?) p.(Arg525Cys)
./. - c.1574G>A - r.(?) p.(Arg525His)
-?/. - c.1746+8A>G likely benign r.(=) p.(=)
-?/. - c.1821C>T likely benign r.(?) p.(=)
-/. - c.1827A>G benign r.(?) p.(=)
-?/. - c.2037-9C>T likely benign r.(=) p.(=)
-?/. - c.2136G>A likely benign r.(?) p.(=)
+?/. - c.2226_2231delinsT - r.(?) p.(Leu743Argfs*6)
+/? 15 c.2255G>C - r.(?) p.(Gly752Ala)
?/. 15 c.2255G>C - r.(?) p.(Gly752Ala)
?/. 15 c.2255G>C - r.(?) p.(Gly752Ala)
+/? 15 c.2264A>G - r.(?) p.(Lys755Arg)
?/. 15 c.2264A>G - r.(?) p.(Lys755Arg)
+/? 15 c.2267C>T - r.(?) p.(Thr756Ile)
?/. 15 c.2267C>T - r.(?) p.(Thr756Ile)
?/. 15 c.2348C>G - r.(?) p.(Ser783Trp)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
?/? - c.2349-10del - r.(=) p.(=)
-/. - c.2349-10dup benign r.(=) p.(=)
?/? - c.2349-9del - r.(=) p.(=)
-?/. - c.2349-6C>T likely benign r.(=) p.(=)
+?/. - c.2431C>T likely pathogenic r.(?) p.(Arg811Cys)
?/? - c.2527-25G>A - r.(=) p.(=)
?/? - c.2527-25G>A - r.(=) p.(=)
?/? - c.2527-25G>A - r.(=) p.(=)
?/. 18 c.2551G>C - r.(?) p.(Asp851His)
+/? 18 c.2551G>C - r.(?) p.(Asp851His)
+/. 18 c.2554G>A - r.(?) p.(Glu852Lys)
?/. 18 c.2554G>A - r.(?) p.(Glu852Lys)
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