Transcript #00023816

Transcript name transcript variant 2
Gene name KAT6B (K(lysine) acetyltransferase 6B)
Chromosome 10
Transcript - NCBI ID NM_001256468.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001243397.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

76 entries on 1 page. Showing entries 1 - 76.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-615279_*1736057del - r.? p.?
-?/. - c.262T>G likely benign r.(?) p.(Phe88Val)
?/. - c.928G>C VUS r.(?) p.(Gly310Arg)
-/. - c.929-12A>G benign r.(=) p.(=)
+/. - c.1006C>T pathogenic r.(?) p.(Arg336*)
+/. - c.1009C>T pathogenic r.(?) p.(Arg337*)
+?/. - c.1030C>T likely pathogenic r.(?) p.(Arg344*)
./. - c.1045_1049delTTAAA - r.(?) p.(Leu349Alafs*9)
-?/. - c.1123G>A likely benign r.(?) p.(Gly375Ser)
-?/. - c.1282A>C likely benign r.(?) p.(Asn428His)
-?/. - c.1439C>T likely benign r.(?) p.(Ala480Val)
-?/. - c.1444+24C>T likely benign r.(=) p.(=)
./. - c.1750C>T - r.(?) p.(His584Tyr)
./. - c.1750C>T - r.(?) p.(His584Tyr)
./. - c.1750C>T - r.(?) p.(His584Tyr)
+/. - c.1798C>T pathogenic r.(?) p.(Arg600*)
+/. - c.1940del pathogenic r.(?) p.(Thr647Lysfs*29)
?/. - c.1993C>T VUS r.(?) p.(Leu665Phe)
./. - c.2087T>A - r.(?) p.(Leu696*)
?/. - c.2371T>C VUS r.(?) p.(Cys791Arg)
-?/. - c.2472+3A>G likely benign r.spl? p.?
./. - c.2598G>A - r.(=) p.(=)
./. - c.2598G>A - r.(=) p.(=)
./. - c.2598G>A - r.(=) p.(=)
+/. - c.2623C>T pathogenic r.(?) p.(Arg875*)
-?/. - c.2671_2682del likely benign r.(?) p.(Asp894_Glu897del)
+/. - c.2692G>T pathogenic r.(?) p.(Glu898*)
+/. - c.2709del pathogenic r.(?) p.(Glu904Argfs*27)
-/. - c.2740_2742del benign r.(?) p.(Glu921del)
-/. - c.2740_2742del benign r.(?) p.(Glu921del)
-?/. - c.2740_2742dup likely benign r.(?) p.(Glu921dup)
-/. - c.2741_2742insGAA benign r.(?) p.(Glu914_Glu915insLys)
+/. - c.2800_2801del pathogenic r.(?) p.(Gln934Valfs*19)
./. - c.3052_3054del - r.(?) p.(Arg1018del)
-?/. - c.3100G>T likely benign r.(?) p.(Ala1034Ser)
+/. - c.3116-1G>A pathogenic r.spl? p.?
./. - c.3187C>T - r.(?) p.(Gln1063*)
+/. - c.3224dup pathogenic r.(?) p.(Trp1076Valfs*12)
+/. - c.3239_3240del pathogenic r.(?) p.(Lys1080Argfs*7)
+/. - c.3413_3414del pathogenic r.(?) p.(Gln1138Argfs*20)
-?/. - c.3487G>T likely benign r.(?) p.(Asp1163Tyr)
?/. - c.3487G>T VUS r.(?) p.(Asp1163Tyr)
?/. - c.3514_3519del VUS r.(?) p.(Glu1184_Glu1185del)
-/. - c.3528_3529insAAGAGGAAG benign r.(?) p.(Glu1176_Glu1177insLysArgLys)
-/. - c.3529_3537del benign r.(?) p.(Glu1183_Glu1185del)
+?/. - c.3547G>T ACMG 4 r.(?) p.(Glu1183*)
-/. - c.3548_3556del benign r.(?) p.(Glu1183_Glu1185del)
?/. - c.3548_3556dup VUS r.(?) p.(Glu1183_Glu1185dup)
-?/. - c.3555_3556insAAGAGGAAG likely benign r.(?) p.(Glu1185_Gly1186insLysArgLys)
./. - c.3622G>T - r.(?) p.(Glu1208*)
./. - c.3622G>T - r.(?) p.(Glu1208*)
./. - c.3656_3657delCT - r.(?) p.(Ser1219Cysfs*5)
-/. - c.3729C>T benign r.(=) p.(=)
+/. - c.3830del pathogenic r.(?) p.(Leu1277*)
-?/. - c.3929C>T likely benign r.(?) p.(Ala1310Val)
-/. - c.3946G>A benign r.(?) p.(Val1316Ile)
./. - c.4023dupT - r.(?) p.(Thr1342Tyrfs*16)
./. - c.4043delA - r.(?) p.(Asn1348Thrfs*18)
+/. - c.4053del pathogenic r.(?) p.(Met1352Trpfs*14)
-?/. - c.4084G>A likely benign r.(?) p.(Val1362Ile)
-?/. - c.4286G>A likely benign r.(?) p.(Arg1429His)
-?/. - c.4286G>A likely benign r.(?) p.(Arg1429His)
+/. - c.4362_4372del pathogenic r.(?) p.(Val1455Alafs*27)
./. - c.4466G>C - r.(?) p.(Ser1489Thr)
./. - c.4492G>A - r.(?) p.(Glu1498Lys)
./. - c.4515_4522delinsCACA - r.(?) p.(Met1507Glufs*24)
./. - c.4652_4661dupTGCTGCAGCA - r.(?) p.(Gln1554Hisfs*41)
-?/. - c.4778C>A likely benign r.(?) p.(Thr1593Asn)
./. - c.4840C>T - r.(?) p.(Arg1614*)
./. - c.4840C>T - r.(?) p.(Arg1614*)
+?/. - c.4861del likely pathogenic r.(?) p.(Ala1622Leufs*19)
+/. - c.4864del pathogenic r.(?) p.(Ala1622Leufs*19)
+?/. 18 c.4943C>G - r.(?) p.(Ser1648*)
+?/. - c.4943C>G - r.(?) p.(Ser1648*)
./. - c.5324delinsC - r.(=) p.(=)
+?/. - c.5618A>G likely pathogenic r.(?) p.(Tyr1873Cys)
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