Transcript #00010305

Transcript name transcript variant 1
Gene name KAT6B (K(lysine) acetyltransferase 6B)
Chromosome 10
Transcript - NCBI ID NM_012330.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_036462.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

118 entries on 2 pages. Showing entries 1 - 100.
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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.375C>T likely benign r.(=) p.(=)
+/+ 3 c.527dup - r.(?) p.(Tyr176*)
+/+ 3i t(10;13)(q22.3;q34)(c.621+26310_621+26311) - r.0? p.0?
?/. - 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.1123G>A likely benign r.(?) p.(Gly375Ser)
-?/. - c.1282A>C likely benign r.(?) p.(Asn428His)
-?/. - c.1439C>T likely benign r.(?) p.(Ala480Val)
-?/. - c.1468C>T likely benign r.(?) p.(Pro490Ser)
+/. - c.2347C>T pathogenic r.(?) p.(Arg783*)
+/. - c.2489del pathogenic r.(?) p.(Thr830Lysfs*29)
?/. - c.2542C>T VUS r.(?) p.(Leu848Phe)
?/. - c.2920T>C VUS r.(?) p.(Cys974Arg)
?/. 18 c.2959T>C - r.(?) p.(Trp987Arg)
+/+ 15 c.3018del - r.(?) p.(Glu1007Argfs*5)
-?/. - c.3021+3A>G likely benign r.spl? p.?
+?/. 18 c.3040C>T - r.(?) p.(Gln1014*)
+?/. 16 c.3064G>T - r.(?) p.(Glu1022*)
+?/. 16 c.3147G>A - r.(=) p.(=)
+?/. 16 c.3147G>A - r.(spl?) p.(?)
+?/. 16 c.3147G>A - r.(=) p.(=)
+/. - c.3172C>T pathogenic r.(?) p.(Arg1058*)
-?/. - c.3220_3231del likely benign r.(?) p.(Asp1077_Glu1080del)
+/. - c.3241G>T pathogenic r.(?) p.(Glu1081*)
+/. - c.3258del pathogenic r.(?) p.(Glu1087Argfs*27)
-/. - c.3289_3291del benign r.(?) p.(Glu1104del)
-/. - c.3289_3291del benign r.(?) p.(Glu1104del)
-?/. - c.3289_3291dup likely benign r.(?) p.(Glu1104dup)
-/. - c.3290_3291insGAA benign r.(?) p.(Glu1097_Glu1098insLys)
+/. - c.3349_3350del pathogenic r.(?) p.(Gln1117Valfs*19)
+?/. 17 c.3366_3369del - r.(?) p.(Lys1124Glyfs*5)
+?/. 17 c.3401_3402del - r.(?) p.(Gly1134Alafs*2)
+?/. 17 c.3598_3622dup25 - r.(?) p.(Gly1208Glufs*19)
-?/. - c.3649G>T likely benign r.(?) p.(Ala1217Ser)
+/. - c.3665-1G>A pathogenic r.spl? p.?
+/+ 18 c.3680_3695del - r.(?) p.(Asp1227Glufs*11)
+?/. 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13)
+/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13)
+/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13)
+/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13)
+/+ 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13)
+/+ 18 c.3773dup - r.(?) p.(Trp1259Valfs*12)
+/. - c.3773dup pathogenic r.(?) p.(Trp1259Valfs*12)
+/. - c.3788_3789del pathogenic r.(?) p.(Lys1263Argfs*7)
+/+ 18 c.3788_3789del - r.(?) p.(Lys1263Argfs*7)
+/+ 18 c.3802G>T - r.(?) p.(Gly1268*)
+/+ 18 c.3860_3863del - r.(?) p.(Val1287Glufs*46)
+/+ 18 c.3877A>T - r.(?) p.(Lys1293*)
+/+ 18 c.3892G>T - r.(?) p.(Gly1298*)
+?/. 18 c.3962_3963del - r.(?) p.(Gln1321Argfs*20)
+/. - c.3962_3963del pathogenic r.(?) p.(Gln1321Argfs*20)
-?/. - c.4036G>T likely benign r.(?) p.(Asp1346Tyr)
?/. - c.4036G>T VUS r.(?) p.(Asp1346Tyr)
?/. - c.4063_4068del VUS r.(?) p.(Glu1367_Glu1368del)
+/+ 18 c.4069G>T - r.(?) p.(Glu1357*)
+?/. 18 c.4074_4079del - r.(?) p.(Glu1367_Glu1368del)
-/. - c.4077_4078insAAGAGGAAG benign r.(?) p.(Glu1359_Glu1360insLysArgLys)
-/. - c.4078_4086del benign r.(?) p.(Glu1366_Glu1368del)
+?/. - c.4096G>T ACMG 4 r.(?) p.(Glu1366*)
-/. - c.4097_4105del benign r.(?) p.(Glu1366_Glu1368del)
?/. - c.4097_4105dup VUS r.(?) p.(Glu1366_Glu1368dup)
-?/. - c.4104_4105insAAGAGGAAG likely benign r.(?) p.(Glu1368_Gly1369insLysArgLys)
+?/. 18 c.4114G>T - r.(?) p.(Glu1372*)
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5)
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5)
+?/. 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5)
+/+ 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5)
+/+ 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5)
-/. - c.4278C>T benign r.(=) p.(=)
+?/. 18 c.4312del - r.(?) p.(Glu1438Lysfs*23)
+?/. 18 c.4320_4321del - r.(?) p.(Lys1441Glyfs*22)
+/+ 18 c.4360_4368delinsAAAAACCAAAA - r.(?) p.(Glu1454Lysfs*8)
+/. - c.4379del pathogenic r.(?) p.(Leu1460*)
+/+ 18 c.4405dup - r.(?) p.(Ser1469Phefs*18)
-?/. - c.4478C>T likely benign r.(?) p.(Ala1493Val)
-/. - c.4495G>A benign r.(?) p.(Val1499Ile)
+/. - c.4602del pathogenic r.(?) p.(Met1535Trpfs*14)
-?/. - c.4633G>A likely benign r.(?) p.(Val1545Ile)
+?/. 18 c.4728_4729del - r.(?) p.(Arg1577Cysfs*21)
-?/. - c.4835G>A likely benign r.(?) p.(Arg1612His)
-?/. - c.4835G>A likely benign r.(?) p.(Arg1612His)
+?/. 18 c.4911_4921del - r.(?) p.(Val1638Alafs*27)
+/+ 18 c.4911_4921del - r.(?) p.(Val1638Alafs*27)
+/. - c.4911_4921del pathogenic r.(?) p.(Val1638Alafs*27)
./. - c.5015G>C - r.(?) p.(Ser1672Thr)
+/+ 18 c.5030del - r.(?) p.(Thr1677Metfs*38)
./. - c.5041G>A - r.(?) p.(Glu1681Lys)
+/+ 18 c.5064_5071delinsCACA - r.(?) p.(Met1690Glufs*24)
+?/. 18 c.5115_5116del - r.(?) p.(Tyr1706*)
+?/. 18 c.5131del - r.(?) p.(Ser1711Profs*4)
+/+ 18 c.5201_5210dup - r.(?) p.(Gln1737Hisfs*41)
+/+ 18 c.5201_5210dup - r.(?) p.(Gln1737Hisfs*41)
+?/. 18 c.5209C>T - r.(?) p.(Gln1737*)
+?/. 18 c.5302C>T - r.(?) p.(Gln1768*)
+?/. 18 c.5302C>T - r.(?) p.(Gln1768*)
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