Unique variants in the POLE gene

Information The variants shown are described using the NM_006231.3 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
Legend   How to query  

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 1i c.62+15C>T p.(=) Hetero no r.(=) - g.132687239G>A - POLE_000007 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 2 c.198G>A p.(Met66Ile) Hetero NTHL1 r.(?) - g.132681144C>T - POLE_000016 - - Pablo Kalfayan-Hospital Italiano
?/? 1 6 c.577A>G (p.Ser193Gly) Hetero MSH2;NTHL1 r.? - g.132679498T>C - POLE_000023 rs760588718 - Maria Laura Gonzalez-Hospital Italiano
-/- 1 8 c.755C>T p.(Ala252Val) Homo no r.(?) - g.132677409G>A - POLE_000008 - - Silvina Sisterna-Hospital de Comunidad
-/- 2 9i c.910-6G>C p.(=) Homo no r.(=) - g.132676210C>G - POLE_000009 - - Lina Nuñez-Private Practice, Silvina Sisterna-Hospital de Comunidad
?/? 1 13 c.1337G>A p.Arg446Gln Hetero no r.(1337g>a) - g.132673597C>T - POLE_000019 rs151273553 - Yolanda Isabel Medina - Hospital Juan D. Perón
?/? 1 14 c.1455T>G p.(Ile485Met) Hetero no r.(1455u>g) - g.132673182A>C - POLE_000024 rs878854843 - Pablo Kalfayan - Consultorio Particular.
?/? 1 19 c.2090C>G p.(Pro697Arg) Hetero no r.(2090c>g) - g.132668439G>C - POLE_000020 rs36120395 - Cecilia Montes-IMGO
-/- 1 21 c.2340G>A p.(=) Hetero no r.(=) - g.132665430C>T - POLE_000010 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 23 c.2599G>A (p.Val867Ile) Hetero no r.? - g.132664111C>T - POLE_000026 rs374200895 - Maria Laura Gonzalez-Hospital Italiano
-/- 1 26 c.3156G>A p.(=) Homo no r.(=) - g.132659414C>T - POLE_000002 - - Pablo Kalfayan-Hospital Italiano
?/? 1 26 c.3235A>G p.Ile1079Val Hetero no r.(3235a>g) - g.132659335T>C - POLE_000025 rs775002004 - Pablo Kalfayan-Hospital Italiano
?/? 1 27 c.3311C>T p.(Thr1104Met) Hetero no r.(3311c>u) - g.132657935G>A - POLE_000018 rs531705054 - Erika Stegmayer-CIOC
-/- 1 29i c.3582+17A>G p.(=) Homo no r.(=) - g.132657119T>C - POLE_000011 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 31 c.3919A>G p.(Ile1307Val) Hetero N/A r.(3919a>g) - g.132649392T>C - POLE_000017 rs1000912264 - Pablo Kalfayan-Hospital Italiano
-/- 1 33i c.4290+5C>T p.? Hetero no r.spl? - g.132643832G>A - POLE_000012 - - Silvina Sisterna-Hospital de Comunidad
?/. 1 34 c.4328G>C p.(Cys1443Ser) Hetero PALB2 r.(?) - g.132643523C>G - POLE_000015 - - Laura Vargas Roig-IMBECU
-/- 1 34i c.4444+4T>A p.? Hetero no r.spl? - g.132643403A>T - POLE_000013 - - Silvina Sisterna-Hospital de Comunidad
-/- 1 35 c.4530A>G p.(=) Homo no r.(=) - g.132643245T>C - POLE_000003 - - Pablo Kalfayan-Hospital Italiano
+?/+? 1 37 c.4953-2A>G p.? Hetero no r.? - g.132642399T>C - POLE_000027 rs2042166568 - Maria Laura Gonzalez-Hospital Italiano
?/? 1 40 c.5395G>A p.(Val1799Ile) Hetero no r.(?) - g.132639282C>T - POLE_000014 - - Silvina Sisterna-Hospital de Comunidad
-/- 2 42 c.5707C>T p.(=) Homo, Hetero no r.(=) - g.132635996G>A - POLE_000004 - - Silvina Sisterna-Hospital de Comunidad, Pablo Kalfayan-Hospital Italiano
-/- 2 45 c.6252A>G p.(=) Homo no r.(=) - g.132632393T>C - POLE_000005 - - Silvina Sisterna-Hospital de Comunidad, Pablo Kalfayan-Hospital Italiano
?/? 1 46 c.6434G>A p.(Arg2145Gln) Hetero PTEN r.(?) - g.132626214C>T - POLE_000001 - - Maria Laura Gonzalez-Hospital Italiano
-/- 1 46 c.6494G>A p.(Arg2165His) Hetero no r.(?) RECLASSIFIED JULY 2022 g.132626154C>T - POLE_000006 - - Pablo Kalfayan-Hospital Italiano
?/? 1 47 c.6539C>T p.(Ala2180Val) Hetero no r.(6539c>u) - g.132625763G>A - POLE_000022 rs552452448 - Cecilia Montes-IMGO
?/? 1 48 c.6716C>T p.(Ala2239Val) Hetero PALB2 r.(6716c>u) - g.132624936G>A - POLE_000021 rs190813054 - Cecilia Montes-IMGO
Legend   How to query