Unique variants in gene BUB1B

Information The variants shown are described using the NM_001211.5 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. 1 - c.-33C>A r.(=) p.(=) g.40453389C>A - BUB1B_000019 - - - - Despoina Kalfakakou
./. 5 - c.15G>A r.(=) p.(=) g.40453436G>A - BUB1B_000020 - - - - Despoina Kalfakakou
./. 1 - c.140A>G r.(?) p.(Gln47Arg) g.40457358A>G - BUB1B_000042 - - - - Despoina Kalfakakou
./. 1 - c.180-3C>T r.spl? p.? g.40462260C>T - BUB1B_000027 - - - - Despoina Kalfakakou
./. 2 - c.270T>G r.(=) p.(=) g.40462768T>G - BUB1B_000028 - - - - Despoina Kalfakakou
./. 58 - c.348T>C r.(=) p.(=) g.40462846T>C - BUB1B_000007 rs28989189 - - - Despoina Kalfakakou
./. 7 - c.384+33A>C r.(=) p.(=) g.40462915A>C - BUB1B_000010 - - - - Despoina Kalfakakou
./. 1 - c.385-45A>C r.(=) p.(=) g.40468633A>C - BUB1B_000048 - - - - Despoina Kalfakakou
./. 5 - c.573C>A r.(=) p.(=) g.40468866C>A - BUB1B_000008 - - - - Despoina Kalfakakou
./. 1 - c.582-32C>T r.(=) p.(=) g.40475883C>T - BUB1B_000011 - - - - Despoina Kalfakakou
./. 1 - c.605G>A r.(?) p.(Arg202Gln) g.40475938G>A - BUB1B_000059 - - - - Despoina Kalfakakou
./. 1 - c.615G>A r.(=) p.(=) g.40475948G>A - BUB1B_000001 - - - - Despoina Kalfakakou
./. 1 - c.751+19A>G r.(=) p.(=) g.40476103A>G - BUB1B_000012 - - - - Despoina Kalfakakou
./. 1 - c.751+24G>A r.(=) p.(=) g.40476108G>A - BUB1B_000053 - - - - Despoina Kalfakakou
./. 8 - c.752-39G>T r.(=) p.(=) g.40477327G>T - BUB1B_000013 - - - - Despoina Kalfakakou
./. 2 - c.805A>G r.(?) p.(Asn269Asp) g.40477419A>G - BUB1B_000057 - - - - Despoina Kalfakakou
./. 1 - c.827A>T r.(?) p.(Asp276Val) g.40477441A>T - BUB1B_000067 - - - - Despoina Kalfakakou
./. 4 - c.833A>G r.(?) p.(Asn278Ser) g.40477447A>G - BUB1B_000026 - - - - Despoina Kalfakakou
./. 1 - c.904A>G r.(?) p.(Arg302Gly) g.40477518A>G - BUB1B_000039 - - - - Despoina Kalfakakou
./. 1 - c.906G>A r.(=) p.(=) g.40477520G>A - BUB1B_000002 - - - - Despoina Kalfakakou
./. 1 - c.966+24T>G r.(=) p.(=) g.40477604T>G - BUB1B_000040 - - - - Despoina Kalfakakou
./. 1 - c.967-3C>T r.spl? p.? g.40477749C>T - BUB1B_000037 - - - - Despoina Kalfakakou
./. 1 - c.1052C>T r.(?) p.(Pro351Leu) g.40477837C>T - BUB1B_000066 - - - - Despoina Kalfakakou
./. 1 - c.1059-35G>A r.(=) p.(=) g.40488711G>A - BUB1B_000014 - - - - Despoina Kalfakakou
./. 1 - c.1084A>G r.(?) p.(Ile362Val) g.40488771A>G - BUB1B_000054 - - - - Despoina Kalfakakou
./. 1 - c.1168_1170del r.(?) p.(Glu391del) g.40488855_40488857del - BUB1B_000038 - - - - Despoina Kalfakakou
./. 1 - c.1194T>C r.(=) p.(=) g.40488881T>C - BUB1B_000003 - - - - Despoina Kalfakakou
./. 1 - c.1288+35C>A r.(=) p.(=) g.40489010C>A - BUB1B_000033 - - - - Despoina Kalfakakou
./. 1 - c.1288+42G>A r.(=) p.(=) g.40489017G>A - BUB1B_000034 - - - - Despoina Kalfakakou
./. 5 - c.1361A>G r.(?) p.(Lys454Arg) g.40491888A>G - BUB1B_000004 - - - - Despoina Kalfakakou
./. 1 - c.1371A>C r.(?) p.(Gln457His) g.40491898A>C - BUB1B_000021 - - - - Despoina Kalfakakou
./. 1 - c.1382A>C r.(?) p.(Gln461Pro) g.40491909A>C - BUB1B_000052 - - - - Despoina Kalfakakou
./. 1 - c.1470A>G r.(=) p.(=) g.40492513A>G - BUB1B_000061 - - - - Despoina Kalfakakou
./. 2 - c.1512T>G r.(?) p.(Cys504Trp) g.40492555T>G - BUB1B_000044 - - - - Despoina Kalfakakou
./. 2 - c.1517+21G>A r.(=) p.(=) g.40492581G>A - BUB1B_000022 - - - - Despoina Kalfakakou
./. 1 - c.1518-23A>G r.(=) p.(=) g.40493109A>G - BUB1B_000045 - - - - Despoina Kalfakakou
./. 3 - c.1535A>G r.(?) p.(Glu512Gly) g.40493149A>G - BUB1B_000023 - - - - Despoina Kalfakakou
./. 1 - c.1628+16_1628+17insT r.(=) p.(=) g.40494682_40494683insT - BUB1B_000065 - - - - Despoina Kalfakakou
./. 5 - c.1628+26T>G r.(=) p.(=) g.40494692T>G - BUB1B_000024 - - - - Despoina Kalfakakou
./. 1 - c.1628+34T>A r.(=) p.(=) g.40494700T>A - BUB1B_000069 - - - - Despoina Kalfakakou
./. 1 - c.1628+34_1628+35insA r.(=) p.(=) g.40494700_40494701insA - BUB1B_000030 - - - - Despoina Kalfakakou
./. 2 - c.1734+46G>T r.(=) p.(=) g.40494941G>T - BUB1B_000005 - - - - Despoina Kalfakakou
./. 1 - c.1883T>G r.(?) p.(Leu628Trp) g.40498533T>G - BUB1B_000058 - - - - Despoina Kalfakakou
./. 1 - c.1935T>G r.(?) p.(Asp645Glu) g.40498585T>G - BUB1B_000029 - - - - Despoina Kalfakakou
./. 1 - c.1936G>A r.(?) p.(Val646Ile) g.40498586G>A - BUB1B_000064 - - - - Despoina Kalfakakou
./. 1 - c.2009+42T>C r.(=) p.(=) g.40498701T>C - BUB1B_000062 - - - - Despoina Kalfakakou
./. 4 - c.2010-50G>A r.(=) p.(=) g.40500788G>A - BUB1B_000015 - - - - Despoina Kalfakakou
./. 3 - c.2010-44A>G r.(=) p.(=) g.40500794A>G - BUB1B_000031 - - - - Despoina Kalfakakou
./. 1 - c.2179C>T r.(?) p.(Arg727Cys) g.40501871C>T - BUB1B_000056 - - - - Despoina Kalfakakou
./. 4 - c.2284+18C>T r.(=) p.(=) g.40501994C>T - BUB1B_000035 - - - - Despoina Kalfakakou
./. 1 - c.2341T>C r.(?) p.(Phe781Leu) g.40502367T>C - BUB1B_000051 - - - - Despoina Kalfakakou
./. 1 - c.2352G>A r.(=) p.(=) g.40502378G>A - BUB1B_000063 - - - - Despoina Kalfakakou
./. 1 - c.2450A>G r.(?) p.(Glu817Gly) g.40504764A>G - BUB1B_000047 - - - - Despoina Kalfakakou
./. 1 - c.2535+10A>C r.(=) p.(=) g.40504859A>C - BUB1B_000032 - - - - Despoina Kalfakakou
./. 1 - c.2535+23T>G r.(=) p.(=) g.40504872T>G - BUB1B_000068 - - - - Despoina Kalfakakou
./. 1 - c.2536-50C>T r.(=) p.(=) g.40505483C>T - BUB1B_000043 - - - - Despoina Kalfakakou
./. 1 - c.2678+14A>T r.(=) p.(=) g.40505689A>T - BUB1B_000036 - - - - Despoina Kalfakakou
./. 1 - c.2678+48T>C r.(=) p.(=) g.40505723T>C - BUB1B_000049 - - - - Despoina Kalfakakou
./. 4 - c.2679-32T>A r.(=) p.(=) g.40509665T>A - BUB1B_000016 - - - - Despoina Kalfakakou
./. 10 - c.2763G>C r.(?) p.(Gln921His) g.40509781G>C - BUB1B_000017 rs28989183 - - - Despoina Kalfakakou
./. 1 - c.2784C>T r.(=) p.(=) g.40509802C>T - BUB1B_000046 - - - - Despoina Kalfakakou
./. 1 - c.2957+8T>C r.(=) p.(=) g.40510771T>C - BUB1B_000060 - - - - Despoina Kalfakakou
./. 1 - c.2980A>G r.(?) p.(Asn994Asp) g.40512787A>G - BUB1B_000055 - - - - Despoina Kalfakakou
./. 1 - c.2997G>A r.(=) p.(=) g.40512804G>A - BUB1B_000018 - - - - Despoina Kalfakakou
./. 1 - c.3018G>A r.(=) p.(=) g.40512825G>A - BUB1B_000009 - - - - Despoina Kalfakakou
./. 1 - c.3094A>C r.(?) p.(Asn1032His) g.40512901A>C - BUB1B_000006 rs34700927 - - - Despoina Kalfakakou
./. 1 - c.3114A>G r.(=) p.(=) g.40512921A>G - BUB1B_000050 - - - - Despoina Kalfakakou
./. 1 - c.*24T>C r.(=) p.(=) g.40512984T>C - BUB1B_000025 - - - - Despoina Kalfakakou
./. 1 - c.*44T>C r.(=) p.(=) g.40513004T>C - BUB1B_000041 - - - - Despoina Kalfakakou
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