Unique variants in gene BRIP1

Information The variants shown are described using the NM_032043.2 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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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     
./. 2 - c.36G>T r.(=) p.(=) g.59938865C>A - BRIP1_000052 rs45566938 - - - - - - Despoina Kalfakakou
./. 1 - c.93+38T>C r.(=) p.(=) g.59938770A>G - BRIP1_000078 - - - - - - - Despoina Kalfakakou
./. 5 - c.94-4A>T r.spl? p.? g.59937272T>A - BRIP1_000011 - - - - - - - Despoina Kalfakakou
./. 5 - c.139C>G r.(?) p.(Pro47Ala) g.59937223G>C - BRIP1_000001 rs28903098 - - - - - - Despoina Kalfakakou
./. 1 - c.195A>G r.(=) p.(=) g.59937167T>C - BRIP1_000042 - - - - - - - Despoina Kalfakakou
./. 1 - c.206-30T>C r.(=) p.(=) g.59934622A>G - BRIP1_000007 - - - - - - - Despoina Kalfakakou
./. 1 - c.206-21T>C r.(=) p.(=) g.59934613A>G - BRIP1_000006 rs2048717 - - - - - - Despoina Kalfakakou
./. 1 - c.341C>T r.(?) p.(Pro114Leu) g.59934457G>A - BRIP1_000087 - - - - - - - Despoina Kalfakakou
./. 1 - c.356A>G r.(?) p.(Asn119Ser) g.59934442T>C - BRIP1_000080 - - - - - - - Despoina Kalfakakou
./. 1 - c.379+1G>A r.spl? p.? g.59934418C>T - BRIP1_000061 - - - - - - - Despoina Kalfakakou
./. 3 - c.380-17T>A r.(=) p.(=) g.59926634A>T - BRIP1_000018 - - - - - - - Despoina Kalfakakou
./. 6 - c.380-17_380-16insT r.(=) p.(=) g.59926633_59926634insA - BRIP1_000017 - - - - - - - Despoina Kalfakakou
./. 1 - c.431C>A r.(?) p.(Ala144Glu) g.59926566G>T - BRIP1_000016 - - - - - - - Despoina Kalfakakou
./. 1 - c.484C>T r.(?) p.(Arg162*) g.59926513G>A - BRIP1_000086 - - - - - - - Despoina Kalfakakou
./. 10 - c.517C>T r.(?) p.(Arg173Cys) g.59924572G>A - BRIP1_000005 rs4988345 - - - - - - Despoina Kalfakakou
./. 2 - c.550G>T r.(?) p.(Asp184Tyr) g.59924539C>A - BRIP1_000037 - - - - - - - Despoina Kalfakakou
./. 33 - c.577G>A r.(?) p.(Val193Ile) g.59924512C>T - BRIP1_000004 rs4988346 - - - - - - Despoina Kalfakakou
./. 1 - c.584T>C r.(?) p.(Leu195Pro) g.59924505A>G - BRIP1_000088 rs4988347 - - - - - - Despoina Kalfakakou
./. 1 - c.587A>G r.(?) p.(Asn196Ser) g.59924502T>C - BRIP1_000029 - - - - - - - Despoina Kalfakakou
./. 1 - c.627+44G>T r.(=) p.(=) g.59924418C>A - BRIP1_000068 - - - - - - - Despoina Kalfakakou
./. 1 - c.670G>A r.(?) p.(Gly224Arg) g.59886076C>T - BRIP1_000053 - - - - - - - Despoina Kalfakakou
./. 1 - c.679C>G r.(?) p.(Gln227Glu) g.59886067G>C - BRIP1_000045 rs45459799 - - - - - - Despoina Kalfakakou
./. 1 - c.702G>A r.(=) p.(=) g.59886044C>T - BRIP1_000038 rs45512798 - - - - - - Despoina Kalfakakou
./. 1 - c.736A>G r.(?) p.(Ile246Val) g.59886010T>C - BRIP1_000015 - - - - - - - Despoina Kalfakakou
./. 8 - c.790C>T r.(?) p.(Arg264Trp) g.59885956G>A - BRIP1_000014 rs28997569 - - - - - - Despoina Kalfakakou
./. 2 - c.797C>T r.(?) p.(Thr266Met) g.59885949G>A - BRIP1_000041 - - - - - - - Despoina Kalfakakou
./. 1 - c.845C>G r.(?) p.(Thr282Ser) g.59885901G>C - BRIP1_000060 rs45624635 - - - - - - Despoina Kalfakakou
./. 1 - c.890A>G r.(?) p.(Lys297Arg) g.59885856T>C - BRIP1_000013 rs28997570 - - - - - - Despoina Kalfakakou
./. 1 - c.918+15T>A r.(=) p.(=) g.59885813A>T - BRIP1_000048 - - - - - - - Despoina Kalfakakou
./. 3 - c.918+42A>C r.(=) p.(=) g.59885786T>G - BRIP1_000003 - - - - - - - Despoina Kalfakakou
./. 3 - c.984_990del r.(?) p.(Phe328Leufs*8) g.59878764_59878770del - BRIP1_000012 - - - - - - - Despoina Kalfakakou
./. 1 - c.1140+11G>A r.(=) p.(=) g.59878603C>T - BRIP1_000043 - - - - - - - Despoina Kalfakakou
./. 1 - c.1141-25A>G r.(=) p.(=) g.59876685T>C - BRIP1_000058 - - - - - - - Despoina Kalfakakou
./. 1 - c.1141-21G>C r.(=) p.(=) g.59876681C>G - BRIP1_000071 - - - - - - - Despoina Kalfakakou
./. 1 - c.1191C>T r.(=) p.(=) g.59876610G>A - BRIP1_000077 - - - - - - - Despoina Kalfakakou
./. 4 - c.1255C>T r.(?) p.(Arg419Trp) g.59876546G>A - BRIP1_000028 - - - - - - - Despoina Kalfakakou
./. 1 - c.1340+1G>T r.spl? p.? g.59876460C>A - BRIP1_000079 - - - - - - - Despoina Kalfakakou
./. 1 - c.1341-50G>T r.(=) p.(=) g.59871140C>A - BRIP1_000033 - - - - - - - Despoina Kalfakakou
./. 2 - c.1357G>A r.(?) p.(Ala453Thr) g.59871074C>T - BRIP1_000002 - - - - - - - Despoina Kalfakakou
./. 1 - c.1433A>G r.(?) p.(His478Arg) g.59870998T>C - BRIP1_000040 rs45501097 - - - - - - Despoina Kalfakakou
./. 1 - c.1455T>C r.(=) p.(=) g.59870976A>G - BRIP1_000064 - - - - - - - Despoina Kalfakakou
./. 1 - c.1473+14del r.(=) p.(=) g.59870944del - BRIP1_000073 - - - - - - - Despoina Kalfakakou
./. 1 - c.1473+27C>T r.(=) p.(=) g.59870931G>A - BRIP1_000050 - - - - - - - Despoina Kalfakakou
./. 1 - c.1474-23C>T r.(=) p.(=) g.59861808G>A - BRIP1_000008 - - - - - - - Despoina Kalfakakou
./. 1 - c.1511T>C r.(?) p.(Ile504Thr) g.59861748A>G - BRIP1_000069 - - - - - - - Despoina Kalfakakou
./. 1 - c.1742G>A r.(?) p.(Arg581Gln) g.59858253C>T - BRIP1_000066 - - - - - - - Despoina Kalfakakou
./. 2 - c.1794+19T>C r.(=) p.(=) g.59858182A>G - BRIP1_000067 - - - - - - - Despoina Kalfakakou
+/+ 1 - c.1935+4_1935+7del r.spl? p.? g.59857615_59857618del - BRIP1_000083 - - Germline ? - - No Despoina Kalfakakou
./. 2 - c.1936-44C>A r.(=) p.(=) g.59853967G>T - BRIP1_000032 - - - - - - - Despoina Kalfakakou
./. 1 - c.2047G>C r.(?) p.(Val683Leu) g.59853812C>G - BRIP1_000054 - - - - - - - Despoina Kalfakakou
./. 15 - c.2097+7G>A r.(=) p.(=) g.59853755C>T - BRIP1_000022 rs4988352 - - - - - - Despoina Kalfakakou
./. 1 - c.2097+26del r.(=) p.(=) g.59853736del - BRIP1_000021 rs4988353 - - - - - - Despoina Kalfakakou
./. 2 - c.2098-22T>C r.(=) p.(=) g.59821974A>G - BRIP1_000034 - - - - - - - Despoina Kalfakakou
./. 1 - c.2120G>T r.(?) p.(Arg707Leu) g.59821930C>A - BRIP1_000070 - - - - - - - Despoina Kalfakakou
+*/+, +/+, ./. 7 - c.2142G>A r.(?) p.(Trp714*) g.59821908C>T - BRIP1_000036 - - Germline ? - - No Despoina Kalfakakou
./. 1 - c.2146A>G r.(?) p.(Asn716Asp) g.59821904T>C - BRIP1_000076 - - - - - - - Despoina Kalfakakou
./. 1 - c.2232C>T r.(=) p.(=) g.59821818G>A - BRIP1_000056 - - - - - - - Despoina Kalfakakou
./. 4 - c.2236A>G r.(?) p.(Ile746Val) g.59821814T>C - BRIP1_000020 - - - - - - - Despoina Kalfakakou
./. 1 - c.2285G>A r.(?) p.(Arg762His) g.59820468C>T - BRIP1_000031 - - - - - - - Despoina Kalfakakou
./. 2 - c.2325T>G r.(?) p.(Asn775Lys) g.59820428A>C - BRIP1_000075 - - - - - - - Despoina Kalfakakou
+/+ 1 - c.2334_2337dupTGTC r.(?) p.(Ile780Cysfs*17) g.59820416_59820419dupGACA - BRIP1_000082 - - Germline ? - - No Despoina Kalfakakou
./. 1 - c.2379+50G>A r.(=) p.(=) g.59820324C>T - BRIP1_000047 - - - - - - - Despoina Kalfakakou
./. 1 - c.2398T>C r.(?) p.(Tyr800His) g.59793406A>G - BRIP1_000057 - - - - - - - Despoina Kalfakakou
./. 2 - c.2493-46T>G r.(=) p.(=) g.59770919A>C - BRIP1_000019 - - - - - - - Despoina Kalfakakou
./. 1 - c.2575+1G>A r.spl? p.? g.59770790C>T - BRIP1_000062 - - - - - - - Despoina Kalfakakou
./. 1 - c.2575+46A>G r.(=) p.(=) g.59770745T>C - BRIP1_000084 - - - - - - - Despoina Kalfakakou
./. 1 - c.2576-29A>G r.(=) p.(=) g.59763555T>C - BRIP1_000074 - - - - - - - Despoina Kalfakakou
+/+, ./. 2 - c.2786_2789del r.(?) p.(Leu929Hisfs*55) g.59763313_59763316del - BRIP1_000065 - - Germline ? - - No Despoina Kalfakakou
./. 2 - c.2804T>G r.(?) p.(Val935Gly) g.59763298A>C - BRIP1_000063 rs4988356 - - - - - - Despoina Kalfakakou
./. 1 - c.2831A>C r.(?) p.(Gln944Pro) g.59763271T>G - BRIP1_000055 - - - - - - - Despoina Kalfakakou
./. 1 - c.2841G>A r.(=) p.(=) g.59763261C>T - BRIP1_000046 - - - - - - - Despoina Kalfakakou
./. 3 - c.2902A>G r.(?) p.(Lys968Glu) g.59763200T>C - BRIP1_000035 - - - - - - - Despoina Kalfakakou
./. 1 - c.2906-3T>G r.spl? p.? g.59761504A>C - BRIP1_000044 - - - - - - - Despoina Kalfakakou
+/+ 1 - c.2947del r.(?) p.(Ile983Leufs*2) g.59761460del - BRIP1_000085 - - Germline ? - - - Despoina Kalfakakou
./. 1 - c.2994G>C r.(?) p.(Lys998Asn) g.59761413C>G - BRIP1_000030 - - - - - - - Despoina Kalfakakou
./. 3 - c.3103C>T r.(?) p.(Arg1035Cys) g.59761304G>A - BRIP1_000009 rs45437094 - - - - - - Despoina Kalfakakou
./. 1 - c.3149C>A r.(?) p.(Thr1050Asn) g.59761258G>T - BRIP1_000023 - - - - - - - Despoina Kalfakakou
./. 2 - c.3178G>A r.(?) p.(Val1060Ile) g.59761229C>T - BRIP1_000027 - - - - - - - Despoina Kalfakakou
./. 1 - c.3191T>C r.(?) p.(Phe1064Ser) g.59761216A>G - BRIP1_000081 - - - - - - - Despoina Kalfakakou
./. 1 - c.3245C>A r.(?) p.(Thr1082Asn) g.59761162G>T - BRIP1_000072 - - - - - - - Despoina Kalfakakou
./. 1 - c.3262C>T r.(?) p.(His1088Tyr) g.59761145G>A - BRIP1_000059 - - - - - - - Despoina Kalfakakou
./. 1 - c.3275C>T r.(?) p.(Pro1092Leu) g.59761132G>A - BRIP1_000025 - - - - - - - Despoina Kalfakakou
./. 1 - c.3331G>C r.(?) p.(Glu1111Gln) g.59761076C>G - BRIP1_000024 - - - - - - - Despoina Kalfakakou
./. 1 - c.3392A>G r.(?) p.(Tyr1131Cys) g.59761015T>C - BRIP1_000026 - - - - - - - Despoina Kalfakakou
./. 15 - c.3459T>C r.(=) p.(=) g.59760948A>G - BRIP1_000010 rs4987050 - - - - - - Despoina Kalfakakou
./. 1 - c.3503A>C r.(?) p.(Lys1168Thr) g.59760904T>G - BRIP1_000039 - - - - - - - Despoina Kalfakakou
./. 1 - c.3546C>T r.(=) p.(=) g.59760861G>A - BRIP1_000051 - - - - - - - Despoina Kalfakakou
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