Individual #00000498

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Jose Llugdar-Instituto Oulton
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

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Variants found     

Owner     
0000000562 DNA SEQ-NG Clinica Universitaria Reina Fabiola - 5-mar-2018 - EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 37 Jose Llugdar-Instituto Oulton



Variants

37 entries on 1 page. Showing entries 1 - 37.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

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DNA change (cDNA)     

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Review status     
1 Unknown -/- g.45330597G>C - MUTYH_000005 - - Jose Llugdar-Instituto Oulton MUTYH 14i NM_001048171.1:c.1435-40C>G p.(=) Homo no r.(=) -
1 Unknown -/- g.45331833C>G - MUTYH_000004 - - Jose Llugdar-Instituto Oulton MUTYH 12 NM_001048171.1:c.972G>C p.(Gln324His) Homo no r.(?) -
1 Unknown -/- g.45332883T>C - MUTYH_000003 - - Jose Llugdar-Instituto Oulton MUTYH 6i NM_001048171.1:c.462+35A>G p.(=) Homo no r.(=) -
2 Unknown -/-? g.47373967T>C - EPCAM_000001 - - Jose Llugdar-Instituto Oulton EPCAM 3 NM_002354.2:c.344T>C p.(Met115Thr) Homo no r.(?) -
2 Unknown -/- g.47385085C>T - EPCAM_000002 - - Jose Llugdar-Instituto Oulton EPCAM 7i NM_002354.2:c.859-81C>T p.(=) Homo no r.(=) RECLASSIFIED JULY 2022. RISK FACTOR.
2 Unknown -/- g.47403074T>C - MSH2_000016 - - Jose Llugdar-Instituto Oulton MSH2 5'UTR NM_000251.2:c.-118T>C p.(=) Homo no r.(=) -
2 Unknown -/- g.47403411C>G - MSH2_000002 - - Jose Llugdar-Instituto Oulton MSH2 1i NM_000251.2:c.211+9C>G p.(=) Homo no r.(=) -
2 Unknown -/- g.47403500T>C - MSH2_000011 - - Jose Llugdar-Instituto Oulton MSH2 1i NM_000251.2:c.211+98T>C p.(=) Homo no r.(=) -
2 Unknown -/- g.47409926C>T - MSH2_000018 - - Jose Llugdar-Instituto Oulton MSH2 2i NM_000251.2:c.367-168C>T p.(=) Homo no r.(=) RECLASSIFIED JUNE 2019
2 Unknown -/- g.47429662G>A - MSH2_000010 - - Jose Llugdar-Instituto Oulton MSH2 6i NM_000251.2:c.1077-80G>A p.(=) Homo no r.(=) -
2 Unknown -/- g.47429732T>C - MSH2_000019 - - Jose Llugdar-Instituto Oulton MSH2 6i NM_000251.2:c.1077-10T>C p.(=) Homo no r.(=) -
2 Unknown -/- g.47466567G>T - MSH2_000014 - - Jose Llugdar-Instituto Oulton MSH2 9i NM_000251.2:c.1511-91G>T p.(=) Homo no r.(=) -
2 Unknown -/- g.47466820G>A - MSH2_000003 - - Jose Llugdar-Instituto Oulton MSH2 10i NM_000251.2:c.1661+12G>A p.(=) Homo no r.(=) -
2 Unknown -/- g.47783419C>A - MSH6_000006 - - Jose Llugdar-Instituto Oulton MSH6 1 NM_000179.2:c.186C>A p.(=) Homo no r.(=) -
2 Unknown -/- g.47783515C>G - MSH6_000007 - - Jose Llugdar-Instituto Oulton MSH6 1i NM_000179.2:c.260+22C>G p.(=) Homo no r.(=) -
2 Unknown -/- g.47790942A>G - MSH6_000008 - - Jose Llugdar-Instituto Oulton MSH6 2 NM_000179.2:c.276A>G p.(=) Homo no r.(=) -
2 Unknown -/- g.47791175T>A - MSH6_000009 - - Jose Llugdar-Instituto Oulton MSH6 2i NM_000179.2:c.457+52T>A p.(=) Homo no r.(=) -
2 Unknown -/- g.47795976T>C - MSH6_000010 - - Jose Llugdar-Instituto Oulton MSH6 3 NM_000179.2:c.540T>C p.(=) Homo no r.(=) -
2 Unknown -/- g.47803319G>C - MSH6_000001 - - Jose Llugdar-Instituto Oulton MSH6 4i NM_000179.2:c.3173-101G>C p.(=) Homo no r.(=) -
2 Unknown -/- g.47803699A>T - MSH6_000002 - - Jose Llugdar-Instituto Oulton MSH6 5i NM_000179.2:c.3438+14A>T p.(=) Homo no r.(=) -
2 Unknown -/- g.47805742_47805745delATCT - MSH6_000012 - - Jose Llugdar-Instituto Oulton MSH6 7i NM_000179.2:c.3646+35_3646+38delATCT p.(=) Homo no r.(=) -
2 Unknown -/- g.47805798T>C - MSH6_000004 - - Jose Llugdar-Instituto Oulton MSH6 7i NM_000179.2:c.3646+91T>C p.(=) Homo no r.(=) -
2 Unknown -/- g.47806412C>G - MSH6_000005 - - Jose Llugdar-Instituto Oulton MSH6 8i NM_000179.2:c.3802-40C>G p.(=) Homo no r.(=) -
3 Unknown -/- g.36993455G>A - MLH1_000013 - - Jose Llugdar-Instituto Oulton MLH1 5'UTR NM_000249.3:c.-93G>A p.(=) Homo no r.(=) -
3 Unknown -/- g.37007142A>G - MLH1_000014 - - Jose Llugdar-Instituto Oulton MLH1 5i NM_000249.3:c.453+79A>G p.(=) Homo no r.(=) -
3 Unknown -/- g.37012077A>G - MLH1_000004 - - Jose Llugdar-Instituto Oulton MLH1 8 NM_000249.3:c.655A>G p.(Ile219Val) Homo no r.(?) -
3 Unknown -/- g.37020549T>C - MLH1_000015 - - Jose Llugdar-Instituto Oulton MLH1 11i NM_000249.3:c.1038+86T>C p.(=) Homo no r.(=) -
3 Unknown -/- g.37025559A>G - MLH1_000005 - - Jose Llugdar-Instituto Oulton MLH1 11i NM_000249.3:c.1039-78A>G p.(=) Homo no r.(=) -
3 Unknown -/- g.37042249A>G - MLH1_000007 - - Jose Llugdar-Instituto Oulton MLH1 14i NM_000249.3:c.1668-19A>G p.(=) Homo no r.(=) -
3 Unknown -/- g.37048783C>T - MLH1_000008 - - Jose Llugdar-Instituto Oulton MLH1 17i NM_000249.3:c.1990-121C>T p.(=) Homo no r.(=) -
7 Unknown -/- g.5973418C>G - PMS2_000008 - - Jose Llugdar-Instituto Oulton PMS2 15 NM_000535.5:c.2570G>C p.(Gly857Ala) Homo no r.(?) -
7 Unknown -/- g.5973522A>G - PMS2_000021 - - Jose Llugdar-Instituto Oulton PMS2 15 NM_000535.5:c.2466T>C p.(=) Homo no r.(=) -
7 Unknown -/- g.5987144T>C - PMS2_000009 - - Jose Llugdar-Instituto Oulton PMS2 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Homo no r.(?) -
7 Unknown -/- g.5987357G>A - PMS2_000005 - - Jose Llugdar-Instituto Oulton PMS2 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Homo no r.(?) -
7 Unknown -/- g.5997349G>C - PMS2_000004 - - Jose Llugdar-Instituto Oulton PMS2 7 NM_000535.5:c.780C>G p.(=) Homo no r.(=) -
7 Unknown -/- g.5999091T>C - PMS2_000002 - - Jose Llugdar-Instituto Oulton PMS2 6i NM_000535.5:c.705+17A>G p.(=) Homo no r.(=) -
7 Unknown -/- g.6003864T>C - PMS2_000015 - - Jose Llugdar-Instituto Oulton PMS2 3i NM_000535.5:c.251-72A>G p.(=) Homo no r.(=) -
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