Transcript #00023817

Transcript name transcript variant 3
Gene name KAT6B (K(lysine) acetyltransferase 6B)
Chromosome 10
Transcript - NCBI ID NM_001256469.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001243398.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

56 entries on 1 page. Showing entries 1 - 56.
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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.(=)
?/. - 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.1117+6G>A likely benign r.(=) p.(=)
-?/. - c.1117+165A>C likely benign r.(=) p.(=)
-?/. - c.1117+322C>T likely benign r.(=) p.(=)
-?/. - c.1117+351C>T likely benign r.(=) p.(=)
+/. - c.1471C>T pathogenic r.(?) p.(Arg491*)
+/. - c.1613del pathogenic r.(?) p.(Thr538Lysfs*29)
?/. - c.1666C>T VUS r.(?) p.(Leu556Phe)
?/. - c.2044T>C VUS r.(?) p.(Cys682Arg)
-?/. - c.2145+3A>G likely benign r.spl? p.?
+/. - c.2296C>T pathogenic r.(?) p.(Arg766*)
-?/. - c.2344_2355del likely benign r.(?) p.(Asp785_Glu788del)
+/. - c.2365G>T pathogenic r.(?) p.(Glu789*)
+/. - c.2382del pathogenic r.(?) p.(Glu795Argfs*27)
-/. - c.2413_2415del benign r.(?) p.(Glu812del)
-/. - c.2413_2415del benign r.(?) p.(Glu812del)
-?/. - c.2413_2415dup likely benign r.(?) p.(Glu812dup)
-/. - c.2414_2415insGAA benign r.(?) p.(Glu805_Glu806insLys)
+/. - c.2473_2474del pathogenic r.(?) p.(Gln825Valfs*19)
-?/. - c.2773G>T likely benign r.(?) p.(Ala925Ser)
+/. - c.2789-1G>A pathogenic r.spl? p.?
+/. - c.2897dup pathogenic r.(?) p.(Trp967Valfs*12)
+/. - c.2912_2913del pathogenic r.(?) p.(Lys971Argfs*7)
+/. - c.3086_3087del pathogenic r.(?) p.(Gln1029Argfs*20)
-?/. - c.3160G>T likely benign r.(?) p.(Asp1054Tyr)
?/. - c.3160G>T VUS r.(?) p.(Asp1054Tyr)
?/. - c.3187_3192del VUS r.(?) p.(Glu1075_Glu1076del)
-/. - c.3201_3202insAAGAGGAAG benign r.(?) p.(Glu1067_Glu1068insLysArgLys)
-/. - c.3202_3210del benign r.(?) p.(Glu1074_Glu1076del)
+?/. - c.3220G>T ACMG 4 r.(?) p.(Glu1074*)
-/. - c.3221_3229del benign r.(?) p.(Glu1074_Glu1076del)
?/. - c.3221_3229dup VUS r.(?) p.(Glu1074_Glu1076dup)
-?/. - c.3228_3229insAAGAGGAAG likely benign r.(?) p.(Glu1076_Gly1077insLysArgLys)
-/. - c.3402C>T benign r.(=) p.(=)
+/. - c.3503del pathogenic r.(?) p.(Leu1168*)
-?/. - c.3602C>T likely benign r.(?) p.(Ala1201Val)
-/. - c.3619G>A benign r.(?) p.(Val1207Ile)
+/. - c.3726del pathogenic r.(?) p.(Met1243Trpfs*14)
-?/. - c.3757G>A likely benign r.(?) p.(Val1253Ile)
-?/. - c.3959G>A likely benign r.(?) p.(Arg1320His)
-?/. - c.3959G>A likely benign r.(?) p.(Arg1320His)
+/. - c.4035_4045del pathogenic r.(?) p.(Val1346Alafs*27)
./. - c.4139G>C - r.(?) p.(Ser1380Thr)
./. - c.4165G>A - r.(?) p.(Glu1389Lys)
-?/. - c.4451C>A likely benign r.(?) p.(Thr1484Asn)
+?/. - c.4534del likely pathogenic r.(?) p.(Ala1513Leufs*19)
+/. - c.4537del pathogenic r.(?) p.(Ala1513Leufs*19)
./. - c.4997delinsC - r.(=) p.(=)
+?/. - c.5291A>G likely pathogenic r.(?) p.(Tyr1764Cys)
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