Unique variants in the BRIP1 gene

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

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
?/? 1 2 c.1A>G p.? Hetero no r.? - g.61861539T>C - BRIP1_000005 - - Rita Valdez-Hospital Alemán
?/? 1 3 c.139C>G (p.Pro47Ala) Hetero no r.(139c>g) - g.61859862G>C - BRIP1_000026 rs28903098 - Guillermo Alberto-Instituto Fleming
?/? 1 4 c.344C>T p.(Pro115Leu) Hetero MLH1 r.(344c>u) - g.61857093G>A - BRIP1_000021 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 1 5 c.388G>A p.(Glu130Lys) Hetero no r.(?) - g.61849248C>T - BRIP1_000008 - - Lina Nuñez-Hospital Alemán
+/+ 1 5i c.394dup p.(Thr132Asnfs*10) Hetero N/A r.(?) - g.61849242dup - BRIP1_000011 - - Angeles Nico-Instituto Roffo
-/- 1 5i c.508-31C>G p.(=) Hetero no r.(=) - g.61847251G>C - BRIP1_000010 - - Pablo Kalfayan-Hospital Italiano
?/?, ./? 3 6 c.517C>T p.(Arg173Cys) Hetero no, ATM r.(517c>u), r.(?) - g.61847211G>A - BRIP1_000015 rs4988345 - Cecilia Montes-IMGO, Virginia Miretti-Hospital de Córdoba, Silvina Sisterna-Hospital de Comunidad
?/? 2 7 c.679C>G p.(Gln227Glu) Hetero no r.(679c>g) - g.61808706G>C - BRIP1_000020 - - Pablo Kalfayan-Hospital Italiano, Virginia Miretti-Hospital de Córdoba
+/+ 1 8 c.1066C>T p.(Arg356*) Hetero N/A r.(?) - g.61801327G>A - BRIP1_000007 - - Lina Nuñez-Hospital Alemán
?/? 1 11-12i c.1629-3T>C p.? Hetero no r.spl? - g.61781008A>G - BRIP1_000017 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 12 c.1663A>G p.(Thr555Ala) Hetero no r.(?) - g.61780971T>C - BRIP1_000012 - - Maria Micaela Zicavo-Inst. Diag. La Plata
?/? 1 13 c.1831G>A p.(Val611Ile) Hetero no r.(1831g>a) - g.61780365C>T - BRIP1_000022 rs777741543 - Lina Nuñez-Hospital Alemán
?/? 1 14 c.2087C>T p.(Pro696Leu) Hetero no r.(2087c>u) - g.61776411G>A - BRIP1_000027 rs147755155 - Nerina Anmuth-Sanatorio Parque
?/?, -/? 2 15 c.2220G>T p.(Gln740His) Hetero no r.(?) - g.61744469C>A - BRIP1_000004 - - Norma Rossi-Hospital de Córdoba, Laura Vargas Roig-IMBECU
+/+ 1 17 c.2392C>T p.(Arg798*) Hetero N/A r.(?) - g.61716051G>A - BRIP1_000016 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 18 c.2537A>C p.(Asp846Ala) Hetero no r.(?) - g.61693468T>G - BRIP1_000014 - - Claudia Martin-Hospital de Córdoba
-/-?, ./-?, -?/- 28 19 c.2637A>G p.(=) Hetero, Not specified, Homo no, ATM, BRCA2, BRCA1 r.(=) RECLASSIFIED NOVEMBER 2020 g.61686104T>C - BRIP1_000001 - - Silvina Sisterna-Hospital de Comunidad, Lina Nuñez-Private Practice, Laura Vargas Roig-IMBECU, Gonzalo Tabares-CEMA, Alejandra Mampel-Hospital Universitario de Mendoza
-/-?, ./-?, -?/- 28 19 c.2755T>C p.(Ser919Pro) Hetero, Not specified, Homo no, ATM, BRCA2, BRCA1 r.(?) RECLASSIFIED NOVEMBER 2020 g.61685986A>G - BRIP1_000002 - - Silvina Sisterna-Hospital de Comunidad, Lina Nuñez-Private Practice, Laura Vargas Roig-IMBECU, Gonzalo Tabares-CEMA, Alejandra Mampel-Hospital Universitario de Mendoza
?/? 1 19 c.2801T>C p.(Phe934Ser) Hetero BARD1 r.(2801u>c) - g.61685940A>G - BRIP1_000024 rs778916092 - Emilia Maldonado-Hospital de Córdoba
-?/- 1 20 c.2937A>G p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022 g.61684109T>C - BRIP1_000006 - - Gonzalo Tabares-CEMA
+?/+? 1 20 c.2990_2993del p.Thr997ArgfsTer61 Hetero no r.(2990_2993del) - g.61684055TGTT[2] - BRIP1_000023 rs771028677 - Laura Vargas Roig-IMBECU
+/+ 1 20 c.2992_2993del p.(Lys998Glufs*3) Hetero N/A r.(2992_2993del) - g.61684054_61684055del - BRIP1_000025 rs878855151 - Pablo Kalfayan-Hospital Italiano
-/-?, ./-?, -?/- 26 20 c.3411T>C p.(=) Hetero, Not specified, Homo no, ATM, BRCA2, BRCA1 r.(=) RECLASSIFIED NOVEMBER 2020 g.61683635A>G - BRIP1_000003 - - Silvina Sisterna-Hospital de Comunidad, Lina Nuñez-Private Practice, Laura Vargas Roig-IMBECU, Gonzalo Tabares-CEMA, Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 1 20 c.3525dup p.(Ile1176Tyrfs*13) Hetero N/A r.(?) - g.61683521dup - BRIP1_000019 - - Maria Constanza Vallone-Hospital Austral
?/? 1 20 c.3553G>C p.(Val1185Leu) Hetero no r.(?) - g.61683493C>G - BRIP1_000013 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 2 20 c.3651G>T p.(Trp1217Cys) Hetero no, CHEK2 r.(?), r.(3651g>u) - g.61683395C>A - BRIP1_000018 - - Pablo Kalfayan-Hospital Italiano, Lina Nuñez-Private Practice
?/? 1 20 c.3728_3730delinsTCC p.(Gly1243_Met1244delinsValLeu) Hetero no r.(?) - g.61683316_61683318delinsGGA - BRIP1_000009 - - Pablo Kalfayan-Hospital Italiano
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