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

67 entries on 1 page. Showing entries 1 - 67.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
./. - c.-615279_*1736057del - - -
+/+ 3 c.527dup - r.(?) p.(Tyr176*)
+/+ 3i t(10;13)(q22.3;q34)(c.621+26310_621+26311) - r.0? p.0?
?/. 18 c.2959T>C - r.(?) p.(Trp987Arg)
+/+ 15 c.3018del - r.(?) p.(Glu1007Argfs*5)
+?/. 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.(=)
+?/. 17 c.3366_3369del - r.(?) p.(Lys1124Glyfs*5)
+?/. 17 c.3401_3402del - r.(?) p.(Gly1134Alafs*2)
+?/. 17 c.3598_3622dup25 - r.(?) p.(Gly1208Glufs*19)
+/+ 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)
+/+ 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)
+/+ 18 c.4069G>T - r.(?) p.(Glu1357*)
+?/. 18 c.4074_4079del - r.(?) p.(Glu1367_Glu1368del)
+?/. - c.4096G>T ACMG 4 r.(?) p.(Glu1366*)
+?/. 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)
+?/. 18 c.4312del - r.(?) p.(Glu1438Lysfs*23)
+?/. 18 c.4320_4321del - r.(?) p.(Lys1441Glyfs*22)
+/+ 18 c.4360_4368delinsAAAAACCAAAA - r.(?) p.(Glu1454Lysfs*8)
+/+ 18 c.4405dup - r.(?) p.(Ser1469Phefs*18)
+?/. 18 c.4728_4729del - r.(?) p.(Arg1577Cysfs*21)
+?/. 18 c.4911_4921del - r.(?) p.(Val1638Alafs*27)
+/+ 18 c.4911_4921del - 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*)
+?/. 18 c.5302C>T - r.(?) p.(Gln1768*)
+/+ 18 c.5370_5373dup - r.(?) p.(Ile1792Glnfs*12)
+?/. 18 c.5389C>T - r.(?) p.(Arg1797*)
+?/. 18 c.5389C>T - r.(?) p.(Arg1797*)
+?/. 18 c.5389C>T - r.(?) p.(Arg1797*)
+/+ 18 c.5389C>T - r.(?) p.(Arg1797*)
+/+ 18 c.5389C>T - r.(?) p.(Arg1797*)
+?/. 18 c.5424C>A - r.(?) p.(Tyr1808*)
+?/. 18 c.5442_5445del - r.(?) p.(Phe1815Alafs*8)
+?/. 18 c.5624_5625del - r.(?) p.(Gln1875Argfs*170)
+?/. 18 c. 5731C>T - r.(?) p.(Gln1911*)
+/+ 18 c.5734A>T - r.(?) p.(Arg1912*)
+?/+? 18 c.5746C>T - r.(?) p.(Gln1916*)
./. - c.5873delinsC - r.(=) p.(=)
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