Unique variants in gene BRCA1

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

170 entries on 2 pages. Showing entries 1 - 100.
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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     
./. 2 - c.-19-27T>G r.(=) p.(=) g.41276159A>C - BRCA1_000068 - - - - Despoina Kalfakakou
./. 2 - c.-19-23T>C r.(=) p.(=) g.41276155A>G - BRCA1_000067 - - - - Despoina Kalfakakou
./. 1 - c.1A>G r.? p.? g.41276113T>C - BRCA1_000128 rs80357287 - - - Despoina Kalfakakou
+/+ 1 - c.66_67del r.(?) p.(Glu23Valfs*17) g.41276047_41276048del - BRCA1_000167 - Germline ? No Despoina Kalfakakou
./. 1 - c.68_69del r.(?) p.(Glu23Valfs*17) g.41276045_41276046del - BRCA1_000076 - - - - Despoina Kalfakakou
./. 1 - c.75C>A r.(=) p.(=) g.41276039G>T - BRCA1_000140 rs80356839 - - - Despoina Kalfakakou
./. 1 - c.81-14C>T r.(=) p.(=) g.41267810G>A - BRCA1_000093 rs80358006 - - - Despoina Kalfakakou
./. 1 - c.135-50C>G r.(=) p.(=) g.41258600G>C - BRCA1_000016 - - - - Despoina Kalfakakou
./. 1 - c.135-40A>T r.(=) p.(=) g.41258590T>A - BRCA1_000020 - - - - Despoina Kalfakakou
./. 1 - c.135-23C>A r.(=) p.(=) g.41258573G>T - BRCA1_000132 - - - - Despoina Kalfakakou
./. 1 - c.150del r.(?) p.(Lys50Asnfs*19) g.41258535del - BRCA1_000036 - - - - Despoina Kalfakakou
+/+, ./. 11 - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 Germline ? Yes Despoina Kalfakakou
./. 1 - c.212+15A>G r.(=) p.(=) g.41258458T>C - BRCA1_000066 - - - - Despoina Kalfakakou
-/-, ./. 4 - c.301+7G>A r.(=) p.(=) g.41256878C>T - BRCA1_000086 rs80358113 Unknown ? No Despoina Kalfakakou
./. 1 - c.302-51C>G r.(=) p.(=) g.41256329G>C - BRCA1_000145 - - - - Despoina Kalfakakou
./. 1 - c.302-1G>C r.spl? p.? g.41256279C>G - BRCA1_000078 rs80358116 - - - Despoina Kalfakakou
./. 2 - c.329_330insA r.(?) p.(Glu111Glyfs*3) g.41256250_41256251insT - BRCA1_000013 - - - - Despoina Kalfakakou
./. 1 - c.331del r.(?) p.(Glu111Lysfs*8) g.41256249del - BRCA1_000057 - - - - Despoina Kalfakakou
./. 1 - c.430A>T r.(?) p.(Asn144Tyr) g.41256150T>A - BRCA1_000113 - - - - Despoina Kalfakakou
./. 1 - c.441+28T>C r.(=) p.(=) g.41256111A>G - BRCA1_000156 - - - - Despoina Kalfakakou
./. 1 - c.441+33_441+49del r.(=) p.(=) g.41256090_41256106del - BRCA1_000139 - - - - Despoina Kalfakakou
./. 11 - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. 1 - c.442-8C>G r.(=) p.(=) g.41251905G>C - BRCA1_000039 - - - - Despoina Kalfakakou
./. 1 - c.457A>G r.(?) p.(Ser153Gly) g.41251882T>C - BRCA1_000157 rs28897674 - - - Despoina Kalfakakou
./. 1 - c.528G>A r.(=) p.(=) g.41251811C>T - BRCA1_000119 rs34545365 - - - Despoina Kalfakakou
./. 7 - c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C - BRCA1_000022 rs56187033 - - - Despoina Kalfakakou
./. 3 - c.547+14del r.(=) p.(=) g.41251778del - BRCA1_000087 - - - - Despoina Kalfakakou
./. 1 - c.548-37C>A r.(=) p.(=) g.41249343G>T - BRCA1_000104 - - - - Despoina Kalfakakou
./. 1 - c.548-34T>C r.(=) p.(=) g.41249340A>G - BRCA1_000037 - - - - Despoina Kalfakakou
./. 1 - c.548-17G>T r.(=) p.(=) g.41249323C>A - BRCA1_000045 rs80358014 - - - Despoina Kalfakakou
./. 14 - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. 2 - c.594-34T>C r.(=) p.(=) g.41247973A>G - BRCA1_000099 - - - - Despoina Kalfakakou
./. 1 - c.671-49T>G r.(=) p.(=) g.41246926A>C - BRCA1_000112 - - - - Despoina Kalfakakou
./. 1 - c.671-12G>T r.(=) p.(=) g.41246889C>A - BRCA1_000092 - - - - Despoina Kalfakakou
./. 3 - c.736T>G r.(?) p.(Leu246Val) g.41246812A>C - BRCA1_000001 rs28897675 - - - Despoina Kalfakakou
./. 1 - c.765G>A r.(=) p.(=) g.41246783C>T - BRCA1_000064 rs62625299 - - - Despoina Kalfakakou
./. 2 - c.927A>G r.(=) p.(=) g.41246621T>C - BRCA1_000115 - - - - Despoina Kalfakakou
./. 1 - c.981A>G r.(=) p.(=) g.41246567T>C - BRCA1_000109 rs1800063 - - - Despoina Kalfakakou
./. 1 - c.1015A>G r.(?) p.(Lys339Glu) g.41246533T>C - BRCA1_000043 rs55842957 - - - Despoina Kalfakakou
./. 1 - c.1016_1017insA r.(?) p.(Val340Glyfs*6) g.41246531_41246532insT - BRCA1_000010 - - - - Despoina Kalfakakou
./. 7 - c.1065G>A r.(=) p.(=) g.41246483C>T - BRCA1_000042 rs41286292 - - - Despoina Kalfakakou
./. 1 - c.1242C>T r.(=) p.(=) g.41246306G>A - BRCA1_000085 - - - - Despoina Kalfakakou
./. 1 - c.1250A>G r.(?) p.(Asn417Ser) g.41246298T>C - BRCA1_000138 rs80357113 - - - Despoina Kalfakakou
./. 1 - c.1291T>A r.(?) p.(Leu431Ile) g.41246257A>T - BRCA1_000098 - - - - Despoina Kalfakakou
./. 1 - c.1401G>A r.(=) p.(=) g.41246147C>T - BRCA1_000152 - - - - Despoina Kalfakakou
./. 6 - c.1456T>C r.(?) p.(Phe486Leu) g.41246092A>G - BRCA1_000083 rs55906931 - - - Despoina Kalfakakou
./. 1 - c.1486C>T r.(?) p.(Arg496Cys) g.41246062G>A - BRCA1_000108 rs28897676 - - - Despoina Kalfakakou
+/+, ./. 4 - c.1504_1508del r.(?) p.(Leu502Alafs*2) g.41246040_41246044del - BRCA1_000082 rs80357888 Germline - No Despoina Kalfakakou
./. 1 - c.1505T>G r.(?) p.(Leu502*) g.41246043A>C - BRCA1_000063 - - - - Despoina Kalfakakou
./. 1 - c.1521_1531del r.(?) p.(Thr509Serfs*3) g.41246017_41246027del - BRCA1_000021 - - - - Despoina Kalfakakou
./. 1 - c.1616C>T r.(?) p.(Thr539Met) g.41245932G>A - BRCA1_000117 rs80357374 - - - Despoina Kalfakakou
./. 6 - c.1648A>C r.(?) p.(Asn550His) g.41245900T>G - BRCA1_000081 rs56012641 - - - Despoina Kalfakakou
./. 1 - c.1670_1673del r.(?) p.(Thr557Lysfs*14) g.41245875_41245878del - BRCA1_000053 - - - - Despoina Kalfakakou
./. 2 - c.1749A>G r.(=) p.(=) g.41245799T>C - BRCA1_000130 - - - - Despoina Kalfakakou
./. 1 - c.1789G>A r.(?) p.(Glu597Lys) g.41245759C>T - BRCA1_000041 rs55650082 - - - Despoina Kalfakakou
./. 1 - c.1839G>T r.(?) p.(Arg613Ser) g.41245709C>A - BRCA1_000052 - - - - Despoina Kalfakakou
./. 4 - c.1865C>T r.(?) p.(Ala622Val) g.41245683G>A - BRCA1_000008 rs56039126 - - - Despoina Kalfakakou
./. 1 - c.1878A>G r.(=) p.(=) g.41245670T>C - BRCA1_000127 rs8176154 - - - Despoina Kalfakakou
./. 8 - c.1881C>G r.(=) p.(=) g.41245667G>C - BRCA1_000006 rs80356838 - - - Despoina Kalfakakou
./. 2 - c.1959A>G r.(=) p.(=) g.41245589T>C - BRCA1_000136 - - - - Despoina Kalfakakou
./. 1 - c.2019del r.(?) p.(Glu673Aspfs*28) g.41245529del - BRCA1_000088 rs80357626 - - - Despoina Kalfakakou
./. 1 - c.2109A>G r.(=) p.(=) g.41245439T>C - BRCA1_000062 rs4986844 - - - Despoina Kalfakakou
./. 1 - c.2215A>G r.(?) p.(Lys739Glu) g.41245333T>C - BRCA1_000141 rs56329598 - - - Despoina Kalfakakou
./. 1 - c.2232T>G r.(=) p.(=) g.41245316A>C - BRCA1_000061 rs4986846 - - - Despoina Kalfakakou
./. 1 - c.2477C>A r.(?) p.(Thr826Lys) g.41245071G>T - BRCA1_000075 rs28897683 - - - Despoina Kalfakakou
./. 1 - c.2504_2505insA r.(?) p.(His835Glnfs*2) g.41245043_41245044insT - BRCA1_000040 - - - - Despoina Kalfakakou
./. 7 - c.2521C>T r.(?) p.(Arg841Trp) g.41245027G>A - BRCA1_000038 rs1800709 - - - Despoina Kalfakakou
./. 4 - c.2522G>A r.(?) p.(Arg841Gln) g.41245026C>T - BRCA1_000080 rs80357337 - - - Despoina Kalfakakou
./. 1 - c.2561C>T r.(?) p.(Ala854Val) g.41244987G>A - BRCA1_000144 rs80357315 - - - Despoina Kalfakakou
./. 1 - c.2584A>G r.(?) p.(Lys862Glu) g.41244964T>C - BRCA1_000126 rs80356927 - - - Despoina Kalfakakou
./. 6 - c.2596C>T r.(?) p.(Arg866Cys) g.41244952G>A - BRCA1_000058 rs41286300 - - - Despoina Kalfakakou
./. 1 - c.2666C>T r.(?) p.(Ser889Phe) g.41244882G>A - BRCA1_000107 - - - - Despoina Kalfakakou
./. 1 - c.2689C>T r.(?) p.(Pro897Ser) g.41244859G>A - BRCA1_000060 - - - - Despoina Kalfakakou
./. 1 - c.2733A>G r.(=) p.(=) g.41244815T>C - BRCA1_000111 rs1800740 - - - Despoina Kalfakakou
./. 1 - c.2814A>G r.(=) p.(=) g.41244734T>C - BRCA1_000150 rs80356851 - - - Despoina Kalfakakou
./. 1 - c.2862A>G r.(=) p.(=) g.41244686T>C - BRCA1_000151 - - - - Despoina Kalfakakou
./. 1 - c.2923C>A r.(?) p.(Gln975Lys) g.41244625G>T - BRCA1_000129 rs80357497 - - - Despoina Kalfakakou
+/+ 4 - c.2963C>A r.(?) p.(Ser988*) g.41244585G>T - BRCA1_000170 - Germline ? No Despoina Kalfakakou
./. 1 - c.3024G>A r.(?) p.(Met1008Ile) g.41244524C>T - BRCA1_000110 rs1800704 - - - Despoina Kalfakakou
./. 1 - c.3083G>A r.(?) p.(Arg1028His) g.41244465C>T - BRCA1_000079 rs80357459 - - - Despoina Kalfakakou
./. 1 - c.3116C>T r.(?) p.(Ala1039Val) g.41244432G>A - BRCA1_000154 - - - - Despoina Kalfakakou
+/+ 1 - c.3158_3159insG r.(?) p.(Val1054Serfs*6) g.41244389_41244390insC - BRCA1_000089 - Germline ? - Despoina Kalfakakou
./. 1 - c.3192T>C r.(=) p.(=) g.41244356A>G - BRCA1_000125 - - - - Despoina Kalfakakou
./. 1 - c.3210A>G r.(=) p.(=) g.41244338T>C - BRCA1_000120 - - - - Despoina Kalfakakou
./. 2 - c.3302G>A r.(?) p.(Ser1101Asn) g.41244246C>T - BRCA1_000101 rs41293447 - - - Despoina Kalfakakou
./. 1 - c.3317del r.(?) p.(Pro1106Leufs*3) g.41244231del - BRCA1_000044 - - - - Despoina Kalfakakou
./. 1 - c.3340G>T r.(?) p.(Glu1114*) g.41244208C>A - BRCA1_000074 rs80357278 - - - Despoina Kalfakakou
./. 1 - c.3367G>T r.(?) p.(Asp1123Tyr) g.41244181C>A - BRCA1_000133 rs80356867 - - - Despoina Kalfakakou
+/+ 3 - c.3371_3372del r.(?) p.(Pro1126Ilefs*6) g.41244176_41244177del - BRCA1_000162 - Germline ? N/A, No Despoina Kalfakakou
./. 1 - c.3375_3376del r.(?) p.(Pro1126Ilefs*6) g.41244172_41244173del - BRCA1_000005 rs80357828 - - - Despoina Kalfakakou
./. 2 - c.3435T>C r.(=) p.(=) g.41244113A>G - BRCA1_000073 - - - - Despoina Kalfakakou
./. 1 - c.3533G>T r.(?) p.(Ser1178Ile) g.41244015C>A - BRCA1_000143 - - - - Despoina Kalfakakou
./. 2 - c.3588A>C r.(=) p.(=) g.41243960T>G - BRCA1_000072 - - - - Despoina Kalfakakou
+*/+, +/+, ./. 7 - c.3607C>T r.(?) p.(Arg1203*) g.41243941G>A - BRCA1_000004 rs62625308 Germline ?, yes No Despoina Kalfakakou
+/+ 1 - c.3625_3626insA r.(?) p.(Leu1209Tyrfs*10) g.41243922_41243923insT - BRCA1_000048 - Germline ? No Despoina Kalfakakou
+/+ 2 - c.3695_3699del r.(?) p.(Val1234Glnfs*8) g.41243849_41243853del - BRCA1_000166 - Germline ? No Despoina Kalfakakou
+/+ 1 - c.3695_3699delGTAAA r.(?) p.(Val1234Glnfs*8) g.41243849_41243853delTTTAC - BRCA1_000159 - Germline ? No Despoina Kalfakakou
+/+, ./. 8 - c.3700_3704del r.(?) p.(Val1234Glnfs*8) g.41243844_41243848del - BRCA1_000046 rs80357609 Germline ?, no No Despoina Kalfakakou
./. 2 - c.3711A>G r.(?) p.(Ile1237Met) g.41243837T>C - BRCA1_000051 rs80357388 - - - Despoina Kalfakakou
./. 2 - c.3747C>T r.(=) p.(=) g.41243801G>A - BRCA1_000059 - - - - Despoina Kalfakakou
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