Unique variants in gene EZH2

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

63 entries on 1 page. Showing entries 1 - 63.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
./. 1 - c.87C>T r.(=) p.(=) g.148544304G>A - EZH2_000036 - - - - - - - Despoina Kalfakakou
./. 1 - c.117+3A>G r.spl? p.? g.148544271T>C - EZH2_000050 - - - - - - - Despoina Kalfakakou
./. 1 - c.118-4del r.spl? p.? g.148543694del - EZH2_000030 - - - - - - - Despoina Kalfakakou
./. 1 - c.118-4dup r.spl? p.? g.148543694dup - EZH2_000029 - - - - - - - Despoina Kalfakakou
./. 1 - c.165C>G r.(?) p.(Ile55Met) g.148543643G>C - EZH2_000046 - - - - - - - Despoina Kalfakakou
./. 4 - c.247-10_247-9insT r.(=) p.(=) g.148529851_148529852insA - EZH2_000013 - - - - - - - Despoina Kalfakakou
./. 1 - c.363+43T>C r.(=) p.(=) g.148529683A>G - EZH2_000028 - - - - - - - Despoina Kalfakakou
./. 1 - c.363+48del r.(=) p.(=) g.148529678del - EZH2_000006 - - - - - - - Despoina Kalfakakou
./. 2 - c.364-17A>G r.(=) p.(=) g.148526957T>C - EZH2_000012 - - - - - - - Despoina Kalfakakou
./. 1 - c.364-16T>C r.(=) p.(=) g.148526956A>G - EZH2_000047 - - - - - - - Despoina Kalfakakou
./. 10 - c.396T>C r.(=) p.(=) g.148526908A>G - EZH2_000011 rs61732845 - - - - - - Despoina Kalfakakou
./. 6 - c.484+13C>T r.(=) p.(=) g.148526807G>A - EZH2_000010 - - - - - - - Despoina Kalfakakou
./. 1 - c.484+17T>C r.(=) p.(=) g.148526803A>G - EZH2_000063 - - - - - - - Despoina Kalfakakou
./. 2 - c.625+22C>T r.(=) p.(=) g.148525810G>A - EZH2_000035 - - - - - - - Despoina Kalfakakou
./. 1 - c.626-23T>A r.(=) p.(=) g.148524381A>T - EZH2_000027 - - - - - - - Despoina Kalfakakou
./. 1 - c.626-3T>C r.spl? p.? g.148524361A>G - EZH2_000062 - - - - - - - Despoina Kalfakakou
./. 2 - c.657T>C r.(=) p.(=) g.148524327A>G - EZH2_000033 - - - - - - - Despoina Kalfakakou
./. 2 - c.717A>G r.(=) p.(=) g.148524267T>C - EZH2_000049 - - - - - - - Despoina Kalfakakou
./. 1 - c.728+25A>G r.(=) p.(=) g.148524231T>C - EZH2_000021 - - - - - - - Despoina Kalfakakou
./. 1 - c.729-20T>G r.(=) p.(=) g.148523744A>C - EZH2_000009 - - - - - - - Despoina Kalfakakou
./. 1 - c.760G>T r.(?) p.(Gly254Cys) g.148523693C>A - EZH2_000008 - - - - - - - Despoina Kalfakakou
./. 1 - c.891T>C r.(=) p.(=) g.148523562A>G - EZH2_000037 - - - - - - - Despoina Kalfakakou
./. 1 - c.892+20G>A r.(=) p.(=) g.148523541C>T - EZH2_000056 - - - - - - - Despoina Kalfakakou
./. 1 - c.893-36A>G r.(=) p.(=) g.148516815T>C - EZH2_000055 - - - - - - - Despoina Kalfakakou
./. 1 - c.917A>C r.(?) p.(Tyr306Ser) g.148516755T>G - EZH2_000022 - - - - - - - Despoina Kalfakakou
./. 1 - c.948C>T r.(=) p.(=) g.148516724G>A - EZH2_000043 - - - - - - - Despoina Kalfakakou
./. 16 - c.950A>G r.(?) p.(Asn317Ser) g.148516722T>C - EZH2_000007 - - - - - - - Despoina Kalfakakou
./. 1 - c.956C>T r.(?) p.(Pro319Leu) g.148516716G>A - EZH2_000060 - - - - - - - Despoina Kalfakakou
./. 1 - c.984+27G>T r.(=) p.(=) g.148516661C>A - EZH2_000048 - - - - - - - Despoina Kalfakakou
./. 2 - c.985-47A>G r.(=) p.(=) g.148515256T>C - EZH2_000058 - - - - - - - Despoina Kalfakakou
./. 1 - c.985-5C>T r.spl? p.? g.148515214G>A - EZH2_000041 - - - - - - - Despoina Kalfakakou
./. 2 - c.1119G>A r.(=) p.(=) g.148515075C>T - EZH2_000032 - - - - - - - Despoina Kalfakakou
./. 1 - c.1164G>A r.(=) p.(=) g.148515030C>T - EZH2_000061 - - - - - - - Despoina Kalfakakou
./. 1 - c.1225+46G>A r.(=) p.(=) g.148514923C>T - EZH2_000053 - - - - - - - Despoina Kalfakakou
./. 1 - c.1395+42A>G r.(=) p.(=) g.148514272T>C - EZH2_000034 - - - - - - - Despoina Kalfakakou
./. 1 - c.1396-34G>A r.(=) p.(=) g.148513904C>T - EZH2_000005 - - - - - - - Despoina Kalfakakou
./. 2 - c.1443C>T r.(=) p.(=) g.148513823G>A - EZH2_000042 - - - - - - - Despoina Kalfakakou
./. 1 - c.1490+32C>G r.(=) p.(=) g.148513744G>C - EZH2_000054 - - - - - - - Despoina Kalfakakou
./. 3 - c.1491-37G>A r.(=) p.(=) g.148512675C>T - EZH2_000004 - - - - - - - Despoina Kalfakakou
./. 1 - c.1491-19T>G r.(=) p.(=) g.148512657A>C - EZH2_000017 - - - - - - - Despoina Kalfakakou
./. 1 - c.1532-18G>T r.(=) p.(=) g.148512149C>A - EZH2_000016 - - - - - - - Despoina Kalfakakou
./. 1 - c.1532-10C>T r.(=) p.(=) g.148512141G>A - EZH2_000052 - - - - - - - Despoina Kalfakakou
./. 2 - c.1580G>A r.(?) p.(Arg527Gln) g.148512083C>T - EZH2_000023 - - - - - - - Despoina Kalfakakou
./. 2 - c.1790A>C r.(?) p.(Lys597Thr) g.148511097T>G - EZH2_000044 - - - - - - - Despoina Kalfakakou
./. 1 - c.1818T>C r.(=) p.(=) g.148511069A>G - EZH2_000057 - - - - - - - Despoina Kalfakakou
./. 1 - c.1836+1G>A r.spl? p.? g.148511050C>T - EZH2_000038 - - - - - - - Despoina Kalfakakou
./. 1 - c.1836+48G>C r.(=) p.(=) g.148511003C>G - EZH2_000045 - - - - - - - Despoina Kalfakakou
./. 2 - c.1837-9A>C r.(=) p.(=) g.148508821T>G - EZH2_000059 - - - - - - - Despoina Kalfakakou
./. 4 - c.1837-6C>T r.(=) p.(=) g.148508818G>A - EZH2_000026 rs78589034 - - - - - - Despoina Kalfakakou
./. 1 - c.1890T>C r.(=) p.(=) g.148508759A>G - EZH2_000025 - - - - - - - Despoina Kalfakakou
./. 2 - c.1932+48T>G r.(=) p.(=) g.148508669A>C - EZH2_000015 - - - - - - - Despoina Kalfakakou
./. 2 - c.1933-8_1933-5del r.spl? p.? g.148507511_148507514del - EZH2_000051 - - - - - - - Despoina Kalfakakou
./. 4 - c.1968A>G r.(=) p.(=) g.148507471T>C - EZH2_000024 - - - - - - - Despoina Kalfakakou
./. 1 - c.2013T>C r.(=) p.(=) g.148507426A>G - EZH2_000039 - - - - - - - Despoina Kalfakakou
./. 1 - c.2014+4T>C r.spl? p.? g.148507421A>G - EZH2_000014 - - - - - - - Despoina Kalfakakou
./. 1 - c.2014+23A>G r.(=) p.(=) g.148507402T>C - EZH2_000031 - - - - - - - Despoina Kalfakakou
./. 1 - c.2034C>A r.(=) p.(=) g.148506463G>T - EZH2_000020 - - - - - - - Despoina Kalfakakou
./. 3 - c.2096-46C>T r.(=) p.(=) g.148506293G>A - EZH2_000003 - - - - - - - Despoina Kalfakakou
./. 3 - c.2096-45G>A r.(=) p.(=) g.148506292C>T - EZH2_000018 - - - - - - - Despoina Kalfakakou
./. 1 - c.2208T>C r.(=) p.(=) g.148504771A>G - EZH2_000019 - - - - - - - Despoina Kalfakakou
./. 1 - c.*16C>T r.(=) p.(=) g.148504722G>A - EZH2_000002 - - - - - - - Despoina Kalfakakou
./. 1 - c.*20C>G r.(=) p.(=) g.148504718G>C - EZH2_000040 - - - - - - - Despoina Kalfakakou
./. 1 - c.*51A>G r.(=) p.(=) g.148504687T>C - EZH2_000001 - - - - - - - Despoina Kalfakakou
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