All transcript variants in gene BRCA1

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

527 entries on 6 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Genetic origin     

Segregation     

Is Greek Founder     

Owner     
./. - c.-19-27T>G r.(=) p.(=) g.41276159A>C - BRCA1_000068 - - - - Despoina Kalfakakou
./. - c.-19-27T>G r.(=) p.(=) g.41276159A>C - BRCA1_000068 - - - - Despoina Kalfakakou
./. - c.-19-23T>C r.(=) p.(=) g.41276155A>G - BRCA1_000067 - - - - Despoina Kalfakakou
./. - c.-19-23T>C r.(=) p.(=) g.41276155A>G - BRCA1_000067 - - - - Despoina Kalfakakou
./. - c.1A>G r.? p.? g.41276113T>C - BRCA1_000128 rs80357287 - - - Despoina Kalfakakou
+/+ - c.66_67del r.(?) p.(Glu23Valfs*17) g.41276047_41276048del - BRCA1_000167 - Germline ? No Despoina Kalfakakou
./. - c.68_69del r.(?) p.(Glu23Valfs*17) g.41276045_41276046del - BRCA1_000076 - - - - Despoina Kalfakakou
./. - c.75C>A r.(=) p.(=) g.41276039G>T - BRCA1_000140 rs80356839 - - - Despoina Kalfakakou
./. - c.81-14C>T r.(=) p.(=) g.41267810G>A - BRCA1_000093 rs80358006 - - - Despoina Kalfakakou
./. - c.135-50C>G r.(=) p.(=) g.41258600G>C - BRCA1_000016 - - - - Despoina Kalfakakou
./. - c.135-40A>T r.(=) p.(=) g.41258590T>A - BRCA1_000020 - - - - Despoina Kalfakakou
./. - c.135-23C>A r.(=) p.(=) g.41258573G>T - BRCA1_000132 - - - - Despoina Kalfakakou
./. - c.150del r.(?) p.(Lys50Asnfs*19) g.41258535del - BRCA1_000036 - - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
+/+ - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 - Germline ? Yes Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.181T>G r.(?) p.(Cys61Gly) g.41258504A>C - BRCA1_000014 rs28897672 - - - Despoina Kalfakakou
./. - c.212+15A>G r.(=) p.(=) g.41258458T>C - BRCA1_000066 - - - - Despoina Kalfakakou
./. - c.301+7G>A r.(=) p.(=) g.41256878C>T - BRCA1_000086 rs80358113 - - - Despoina Kalfakakou
-/- - c.301+7G>A r.(=) p.(=) g.41256878C>T - BRCA1_000086 - Unknown ? No Despoina Kalfakakou
./. - c.301+7G>A r.(=) p.(=) g.41256878C>T - BRCA1_000086 rs80358113 - - - Despoina Kalfakakou
./. - c.301+7G>A r.(=) p.(=) g.41256878C>T - BRCA1_000086 rs80358113 - - - Despoina Kalfakakou
./. - c.302-51C>G r.(=) p.(=) g.41256329G>C - BRCA1_000145 - - - - Despoina Kalfakakou
./. - c.302-1G>C r.spl? p.? g.41256279C>G - BRCA1_000078 rs80358116 - - - Despoina Kalfakakou
./. - c.329_330insA r.(?) p.(Glu111Glyfs*3) g.41256250_41256251insT - BRCA1_000013 - - - - Despoina Kalfakakou
./. - c.329_330insA r.(?) p.(Glu111Glyfs*3) g.41256250_41256251insT - BRCA1_000013 - - - - Despoina Kalfakakou
./. - c.331del r.(?) p.(Glu111Lysfs*8) g.41256249del - BRCA1_000057 - - - - Despoina Kalfakakou
./. - c.430A>T r.(?) p.(Asn144Tyr) g.41256150T>A - BRCA1_000113 - - - - Despoina Kalfakakou
./. - c.441+28T>C r.(=) p.(=) g.41256111A>G - BRCA1_000156 - - - - Despoina Kalfakakou
./. - c.441+33_441+49del r.(=) p.(=) g.41256090_41256106del - BRCA1_000139 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.441+36_441+38del r.(=) p.(=) g.41256101_41256103del - BRCA1_000065 - - - - Despoina Kalfakakou
./. - c.442-8C>G r.(=) p.(=) g.41251905G>C - BRCA1_000039 - - - - Despoina Kalfakakou
./. - c.457A>G r.(?) p.(Ser153Gly) g.41251882T>C - BRCA1_000157 rs28897674 - - - Despoina Kalfakakou
./. - c.528G>A r.(=) p.(=) g.41251811C>T - BRCA1_000119 rs34545365 - - - Despoina Kalfakakou
./. - c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C - BRCA1_000022 rs56187033 - - - Despoina Kalfakakou
./. - c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C - BRCA1_000022 rs56187033 - - - Despoina Kalfakakou
./. - c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C - BRCA1_000022 rs56187033 - - - Despoina Kalfakakou
./. - c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C - BRCA1_000022 rs56187033 - - - Despoina Kalfakakou
./. - c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C - BRCA1_000022 rs56187033 - - - Despoina Kalfakakou
./. - c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C - BRCA1_000022 rs56187033 - - - Despoina Kalfakakou
./. - c.536A>G r.(?) p.(Tyr179Cys) g.41251803T>C - BRCA1_000022 rs56187033 - - - Despoina Kalfakakou
./. - c.547+14del r.(=) p.(=) g.41251778del - BRCA1_000087 - - - - Despoina Kalfakakou
./. - c.547+14del r.(=) p.(=) g.41251778del - BRCA1_000087 - - - - Despoina Kalfakakou
./. - c.547+14del r.(=) p.(=) g.41251778del - BRCA1_000087 - - - - Despoina Kalfakakou
./. - c.548-37C>A r.(=) p.(=) g.41249343G>T - BRCA1_000104 - - - - Despoina Kalfakakou
./. - c.548-34T>C r.(=) p.(=) g.41249340A>G - BRCA1_000037 - - - - Despoina Kalfakakou
./. - c.548-17G>T r.(=) p.(=) g.41249323C>A - BRCA1_000045 rs80358014 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.591C>T r.(=) p.(=) g.41249263G>A - BRCA1_000012 rs1799965 - - - Despoina Kalfakakou
./. - c.594-34T>C r.(=) p.(=) g.41247973A>G - BRCA1_000099 - - - - Despoina Kalfakakou
./. - c.594-34T>C r.(=) p.(=) g.41247973A>G - BRCA1_000099 - - - - Despoina Kalfakakou
./. - c.671-49T>G r.(=) p.(=) g.41246926A>C - BRCA1_000112 - - - - Despoina Kalfakakou
./. - c.671-12G>T r.(=) p.(=) g.41246889C>A - BRCA1_000092 - - - - Despoina Kalfakakou
./. - c.736T>G r.(?) p.(Leu246Val) g.41246812A>C - BRCA1_000001 rs28897675 - - - Despoina Kalfakakou
./. - c.736T>G r.(?) p.(Leu246Val) g.41246812A>C - BRCA1_000001 rs28897675 - - - Despoina Kalfakakou
./. - c.736T>G r.(?) p.(Leu246Val) g.41246812A>C - BRCA1_000001 rs28897675 - - - Despoina Kalfakakou
./. - c.765G>A r.(=) p.(=) g.41246783C>T - BRCA1_000064 rs62625299 - - - Despoina Kalfakakou
./. - c.927A>G r.(=) p.(=) g.41246621T>C - BRCA1_000115 - - - - Despoina Kalfakakou
./. - c.927A>G r.(=) p.(=) g.41246621T>C - BRCA1_000115 - - - - Despoina Kalfakakou
./. - c.981A>G r.(=) p.(=) g.41246567T>C - BRCA1_000109 rs1800063 - - - Despoina Kalfakakou
./. - c.1015A>G r.(?) p.(Lys339Glu) g.41246533T>C - BRCA1_000043 rs55842957 - - - Despoina Kalfakakou
./. - c.1016_1017insA r.(?) p.(Val340Glyfs*6) g.41246531_41246532insT - BRCA1_000010 - - - - Despoina Kalfakakou
./. - c.1065G>A r.(=) p.(=) g.41246483C>T - BRCA1_000042 rs41286292 - - - Despoina Kalfakakou
./. - c.1065G>A r.(=) p.(=) g.41246483C>T - BRCA1_000042 rs41286292 - - - Despoina Kalfakakou
./. - c.1065G>A r.(=) p.(=) g.41246483C>T - BRCA1_000042 rs41286292 - - - Despoina Kalfakakou
./. - c.1065G>A r.(=) p.(=) g.41246483C>T - BRCA1_000042 rs41286292 - - - Despoina Kalfakakou
./. - c.1065G>A r.(=) p.(=) g.41246483C>T - BRCA1_000042 rs41286292 - - - Despoina Kalfakakou
./. - c.1065G>A r.(=) p.(=) g.41246483C>T - BRCA1_000042 rs41286292 - - - Despoina Kalfakakou
./. - c.1065G>A r.(=) p.(=) g.41246483C>T - BRCA1_000042 rs41286292 - - - Despoina Kalfakakou
./. - c.1242C>T r.(=) p.(=) g.41246306G>A - BRCA1_000085 - - - - Despoina Kalfakakou
./. - c.1250A>G r.(?) p.(Asn417Ser) g.41246298T>C - BRCA1_000138 rs80357113 - - - Despoina Kalfakakou
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