View unique variants in gene KAT6B

Information The variants shown are described using the transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

dbSNP ID     

Germline/Somatic/De novo     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
./. 1 - c.-615279_*1736057del - - - g.75971593_78526861del - - ADK_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - De novo - - - - - Johan den Dunnen
+/+ 1 3 c.527dup - r.(?) p.(Tyr176*) g.76603142dup - - KAT6B_000014 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Philippe Campeau
+/+ 1 3i t(10;13)(q22.3;q34)(c.621+26310_621+26311) - r.0? p.0? t(10;13)(q22.3;q34)(g.76629546_76629547del) t(10;13)(q22.3;q34)(c.621+26310_c.621+26311) - KAT6B_000021 - PubMed: Kraft M et al. - Unknown ? - - - - Philippe Campeau
?/. 1 18 c.2959T>C - r.(?) p.(Trp987Arg) g.76780981T>C - - KAT6B_000031 - - - Unknown - - - - - Jill Clayton-Smith
+/+ 1 15 c.3018del - r.(?) p.(Glu1007Argfs*5) g.76781040del - - KAT6B_000008 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.3040C>T - r.(?) p.(Gln1014*) g.76781657C>T - - KAT6B_000030 - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 16 c.3064G>T - r.(?) p.(Glu1022*) g.76781681G>T - - KAT6B_000032 - - - Unknown - - - - - Jill Clayton-Smith
+?/. 3 16 c.3147G>A - r.(=), r.(spl?) p.(=), p.(?) g.76781764G>A - - KAT6B_000026 - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 17 c.3366_3369del - r.(?) p.(Lys1124Glyfs*5) g.76781983_76781986del - - KAT6B_000033 - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 17 c.3401_3402del - r.(?) p.(Gly1134Alafs*2) g.76784744_76784745del - - KAT6B_000025 - - - Unknown - - - - - Jill Clayton-Smith
+?/. 1 17 c.3598_3622dup25 - r.(?) p.(Gly1208Glufs*19) g.76784941_76784965dup - - KAT6B_000034 - - - De novo - - - - - Jill Clayton-Smith
+/+ 1 18 c.3680_3695del - r.(?) p.(Asp1227Glufs*11) g.76788262_76788277del - - KAT6B_000017 - PubMed: Simpson et al. - Unknown ? - - - - Philippe Campeau
+?/., +/+ 5 18 c.3769_3772del - r.(?) p.(Lys1258Glyfs*13) g.76788351_76788354del c.3769_3772delTCTA - KAT6B_000035, KAT6B_000018, KAT6B_000005 - PubMed: Simpson et al., PubMed: Campeau et al. - Unknown ? - - - - Jill Clayton-Smith, Philippe Campeau
+/+ 1 18 c.3773dup - r.(?) p.(Trp1259Valfs*12) g.76788355dup - - KAT6B_000020 - PubMed: Simpson et al. - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3788_3789del - r.(?) p.(Lys1263Argfs*7) g.76788370_76788371del c.3788_3789delAA - KAT6B_000006 - PubMed: Campeau et al. - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3802G>T - r.(?) p.(Gly1268*) g.76788384G>T - - KAT6B_000004 - PubMed: Campeau et al. - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3860_3863del - r.(?) p.(Val1287Glufs*46) g.76788442_76788445del c.3860_3863delTAAC - KAT6B_000022 - - - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3877A>T - r.(?) p.(Lys1293*) g.76788459A>T - - KAT6B_000019 - PubMed: Simpson et al. - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.3892G>T - r.(?) p.(Gly1298*) g.76788474G>T - - KAT6B_000002 - PubMed: Campeau et al. - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.3962_3963del - r.(?) p.(Gln1321Argfs*20) g.76788544_76788545del - - KAT6B_000036 - - - Unknown - - - - - Jill Clayton-Smith
+/+ 1 18 c.4069G>T - r.(?) p.(Glu1357*) g.76788651G>T - - KAT6B_000009 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.4074_4079del - r.(?) p.(Glu1367_Glu1368del) g.76788656_76788661del - - KAT6B_000037 - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 - c.4096G>T ACMG 4 r.(?) p.(Glu1366*) g.76788678G>T - - KAT6B_000051 - Trujillano et al., submitted - De novo - - - - - Daniel Trujillano
+?/. 1 18 c.4114G>T - r.(?) p.(Glu1372*) g.76788696G>T - - KAT6B_000038 - - - De novo - - - - - Jill Clayton-Smith
+?/., +/+ 5 18 c.4205_4206del - r.(?) p.(Ser1402Cysfs*5) g.76788787_76788788del - - KAT6B_000010 - PubMed: Clayton-Smith et al. - De novo, Unknown ? - - - - Jill Clayton-Smith, Philippe Campeau
+?/. 1 18 c.4312del - r.(?) p.(Glu1438Lysfs*23) g.76788894del - - KAT6B_000039 - - - Unknown - - - - - Jill Clayton-Smith
+?/. 1 18 c.4320_4321del - r.(?) p.(Lys1441Glyfs*22) g.76788902_76788903del - - KAT6B_000040 - - - De novo - - - - - Jill Clayton-Smith
+/+ 1 18 c.4360_4368delinsAAAAACCAAAA - r.(?) p.(Glu1454Lysfs*8) g.76788942_76788950delinsAAAAACCAAAA - - KAT6B_000003 - PubMed: Campeau et al. - Unknown ? - - - - Philippe Campeau
+/+ 1 18 c.4405dup - r.(?) p.(Ser1469Phefs*18) g.76788987dup - - KAT6B_000001 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.4728_4729del - r.(?) p.(Arg1577Cysfs*21) g.76789310_76789311del - - KAT6B_000041 - - - De novo - - - - - Jill Clayton-Smith
+?/., +/+ 2 18 c.4911_4921del - r.(?) p.(Val1638Alafs*27) g.76789493_76789503del - - KAT6B_000015 - PubMed: Clayton-Smith et al. - De novo, Unknown ? - - - - Jill Clayton-Smith, Philippe Campeau
./. 1 - c.5015G>C - r.(?) p.(Ser1672Thr) g.76789597G>C - - KAT6B_000050 - PubMed: DDDS 2015, Journal: DDDS 2015 - De novo - - - - - Johan den Dunnen
+/+ 1 18 c.5030del - r.(?) p.(Thr1677Metfs*38) g.76789612del - - KAT6B_000012 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Philippe Campeau
./. 1 - c.5041G>A - r.(?) p.(Glu1681Lys) g.76789623G>A - - KAT6B_000048 - PubMed: DDDS 2015, Journal: DDDS 2015 - De novo - - - - - Johan den Dunnen
+/+ 1 18 c.5064_5071delinsCACA - r.(?) p.(Met1690Glufs*24) g.76789646_76789653delinsCACA c.5064_5071delTACTATGGinsCACA - KAT6B_000024 - Szakszon et al, AJMG 2013 - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.5115_5116del - r.(?) p.(Tyr1706*) g.76789697_76789698del - - KAT6B_000029 - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 18 c.5131del - r.(?) p.(Ser1711Profs*4) g.76789713del - - KAT6B_000042 - - - Unknown - - - - - Jill Clayton-Smith
+/+ 2 18 c.5201_5210dup - r.(?) p.(Gln1737Hisfs*41) g.76789783_76789792dup - - KAT6B_000013 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Philippe Campeau
+?/. 1 18 c.5209C>T - r.(?) p.(Gln1737*) g.76789791C>T - - KAT6B_000027 - - - De novo - - - - - Jill Clayton-Smith
+?/. 3 18 c.5302C>T - r.(?) p.(Gln1768*) g.76789884C>T g.76789884C>T - KAT6B_000043 - - - Unknown, De novo - - - - - Jill Clayton-Smith
+/+ 1 18 c.5370_5373dup - r.(?) p.(Ile1792Glnfs*12) g.76789952_76789955dup - - KAT6B_000007 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Philippe Campeau
+?/., +/+ 5 18 c.5389C>T - r.(?) p.(Arg1797*) g.76789971C>T - - KAT6B_000016, KAT6B_000045 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Jill Clayton-Smith, Philippe Campeau
+?/. 1 18 c.5424C>A - r.(?) p.(Tyr1808*) g.76790006C>A - - KAT6B_000044 - - - Unknown ? - - - - Jill Clayton-Smith
+?/. 1 18 c.5442_5445del - r.(?) p.(Phe1815Alafs*8) g.76790024_76790027del - - KAT6B_000028 - - - De novo - - - - - Jill Clayton-Smith
+?/. 1 18 c.5624_5625del - r.(?) p.(Gln1875Argfs*170) g.76790206_76790207del - - KAT6B_000046 - - - Unknown - - - - - Jill Clayton-Smith
+?/. 1 18 c. 5731C>T - r.(?) p.(Gln1911*) g.76790313C>T - - KAT6B_000047 - - - Unknown - - - - - Jill Clayton-Smith
+/+ 1 18 c.5734A>T - r.(?) p.(Arg1912*) g.76790316A>T - - KAT6B_000011 - PubMed: Clayton-Smith et al. - Unknown ? - - - - Philippe Campeau
+?/+? 1 18 c.5746C>T - r.(?) p.(Gln1916*) g.76790328C>T - - KAT6B_000023 - - - Unknown ? - - - - Philippe Campeau
./. 1 - c.5873delinsC - r.(=) p.(=) g.76790455_76790455delCTinsC - - KAT6B_000049 - PubMed: DDDS 2015, Journal: DDDS 2015 - De novo - - - - - Johan den Dunnen
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