Individual #00000153

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Maria Gonzalez-Hospital Italiano
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     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000172 DNA SEQ-NG Genia - 9-feb-2017 - APC, MUTYH 10 Maria Gonzalez-Hospital Italiano
0000000173 DNA MLPA Genia - 9-feb-2017 - APC 0 Maria Gonzalez-Hospital Italiano
0000000248 DNA MLPA Genia - 30-jun-2017 - APC, MUTYH 0 Maria Gonzalez-Hospital Italiano
0000000249 DNA SEQ-NG Genia - 30-jun-2017 - EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2 37 Maria Gonzalez-Hospital Italiano
0000001807 DNA CNV;SEQ-NG Hospital Italiano de Buenos Aires Other genes tested in this panel are not informed 28-nov-2017 Multigenetic panel BMPR1A 1 Maria Gonzalez-Hospital Italiano



Variants

48 entries on 1 page. Showing entries 1 - 48.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
1 Unknown -/- g.45330597G>C - MUTYH_000005 Maria Gonzalez-Hospital Italiano MUTYH 14i NM_001048171.1:c.1435-40C>G p.(=) Homo no r.(=) -
1 Unknown -/- g.45330597G>C - MUTYH_000005 Maria Gonzalez-Hospital Italiano MUTYH 14i NM_001048171.1:c.1435-40C>G p.(=) Homo no r.(=) -
1 Unknown -/- g.45332883T>C - MUTYH_000003 Maria Gonzalez-Hospital Italiano MUTYH 6i NM_001048171.1:c.462+35A>G p.(=) Homo no r.(=) -
1 Unknown -/- g.45332883T>C - MUTYH_000003 Maria Gonzalez-Hospital Italiano MUTYH 6i NM_001048171.1:c.462+35A>G p.(=) Homo no r.(=) -
2 Unknown -/-? g.47373967T>C - EPCAM_000001 Maria Gonzalez-Hospital Italiano EPCAM 3 NM_002354.2:c.344T>C p.(Met115Thr) Hetero no r.(?) -
2 Unknown ./. g.47385085C>T - EPCAM_000002 Maria Gonzalez-Hospital Italiano EPCAM 7i NM_002354.2:c.859-81C>T p.(=) Hetero no r.(=) -
2 Unknown -/-? g.47386731T>C - EPCAM_000003 Maria Gonzalez-Hospital Italiano EPCAM 3'UTR NM_002354.2:c.*118T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47403074T>C - MSH2_000016 Maria Gonzalez-Hospital Italiano MSH2 5'UTR NM_000251.2:c.-118T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47403411C>G - MSH2_000002 Maria Gonzalez-Hospital Italiano MSH2 1i NM_000251.2:c.211+9C>G p.(=) Hetero no r.(=) -
2 Unknown -/- g.47403500T>C - MSH2_000011 Maria Gonzalez-Hospital Italiano MSH2 1i NM_000251.2:c.211+98T>C p.(=) Hetero no r.(=) -
2 Unknown -?/? g.47409926C>T Reclassified March 2018 MSH2_000018 Maria Gonzalez-Hospital Italiano MSH2 2i NM_000251.2:c.367-168C>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.47429662G>A - MSH2_000010 Maria Gonzalez-Hospital Italiano MSH2 6i NM_000251.2:c.1077-80G>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47466567G>T - MSH2_000014 Maria Gonzalez-Hospital Italiano MSH2 9i NM_000251.2:c.1511-91G>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.47466649A>T - MSH2_000017 Maria Gonzalez-Hospital Italiano MSH2 9i NM_000251.2:c.1511-9A>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.47466820G>A - MSH2_000003 Maria Gonzalez-Hospital Italiano MSH2 10i NM_000251.2:c.1661+12G>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47791175T>A - MSH6_000009 Maria Gonzalez-Hospital Italiano MSH6 2i NM_000179.2:c.457+52T>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47795976T>C - MSH6_000010 Maria Gonzalez-Hospital Italiano MSH6 3 NM_000179.2:c.540T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47798555C>T - MSH6_000011 Maria Gonzalez-Hospital Italiano MSH6 3i NM_000179.2:c.628-56C>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.47798625C>T - MSH6_000018 Maria Gonzalez-Hospital Italiano MSH6 4 NM_000179.2:c.642C>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.47803319G>C - MSH6_000001 Maria Gonzalez-Hospital Italiano MSH6 4i NM_000179.2:c.3173-101G>C p.(=) Hetero no r.(=) -
2 Unknown -?/- g.47805433C>T Reclassified June 2019 MSH6_000020 Maria Gonzalez-Hospital Italiano MSH6 6i NM_000179.2:c.3557-185C>T p.(=) Hetero no r.(=) -
2 Unknown ./. g.47805474G>A - MSH6_000013 Maria Gonzalez-Hospital Italiano MSH6 6i NM_000179.2:c.3557-144G>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47805742_47805745delATCT - MSH6_000012 Maria Gonzalez-Hospital Italiano MSH6 7i NM_000179.2:c.3646+35_3646+38delATCT p.(=) Hetero no r.(=) -
2 Unknown -/- g.47805798T>C - MSH6_000004 Maria Gonzalez-Hospital Italiano MSH6 7i NM_000179.2:c.3646+91T>C p.(=) Hetero no r.(=) -
2 Unknown -/-? g.47806153_47806169del - MSH6_000021 Maria Gonzalez-Hospital Italiano MSH6 7i NM_000179.2:c.3647-51_3647-35del p.(=) Hetero no r.(=) -
2 Unknown -/- g.47806409dupT - MSH6_000019 Maria Gonzalez-Hospital Italiano MSH6 8i NM_000179.2:c.3802-43dupT p.(=) Hetero no r.(=) -
2 Unknown -/- g.47806412C>G - MSH6_000005 Maria Gonzalez-Hospital Italiano MSH6 8i NM_000179.2:c.3802-40C>G p.(=) Hetero no r.(=) -
3 Unknown -/- g.37007142A>G - MLH1_000014 Maria Gonzalez-Hospital Italiano MLH1 5i NM_000249.3:c.453+79A>G p.(=) Homo no r.(=) -
3 Unknown -/- g.37012077A>G - MLH1_000004 Maria Gonzalez-Hospital Italiano MLH1 8 NM_000249.3:c.655A>G p.(Ile219Val) Homo no r.(?) -
3 Unknown -/- g.37020549T>C - MLH1_000015 Maria Gonzalez-Hospital Italiano MLH1 11i NM_000249.3:c.1038+86T>C p.(=) Homo no r.(=) -
3 Unknown -/- g.37025559A>G - MLH1_000005 Maria Gonzalez-Hospital Italiano MLH1 11i NM_000249.3:c.1039-78A>G p.(=) Homo no r.(=) -
3 Unknown -/- g.37042249A>G - MLH1_000007 Maria Gonzalez-Hospital Italiano MLH1 14i NM_000249.3:c.1668-19A>G p.(=) Homo no r.(=) -
3 Unknown -/- g.37048783C>T - MLH1_000008 Maria Gonzalez-Hospital Italiano MLH1 17i NM_000249.3:c.1990-121C>T p.(=) Homo no r.(=) -
5 Unknown -/- g.112766273T>C - APC_000015 Maria Gonzalez-Hospital Italiano APC 1i NM_000038.5:c.136-53T>C p.(=) Hetero no r.(=) -
5 Unknown -/- g.112828864G>A - APC_000007 Maria Gonzalez-Hospital Italiano APC 13 NM_000038.5:c.1635G>A p.(=) Hetero no r.(=) -
5 Unknown -/- g.112840073G>A - APC_000008 Maria Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.4479G>A p.(=) Hetero no r.(=) -
5 Unknown -/- g.112840628G>A - APC_000009 Maria Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.5034G>A p.(=) Hetero no r.(=) -
5 Unknown -/- g.112840862T>G - APC_000013 Maria Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.5268T>G p.(=) Hetero no r.(=) -
5 Unknown -/- g.112841059T>A - APC_000002 Maria Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.5465T>A p.(Val1822Asp) Hetero no r.(?) -
5 Unknown -/- g.112841474G>A - APC_000011 Maria Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.5880G>A p.(=) Hetero no r.(=) -
5 Unknown -/- g.112844212C>A - APC_000016 Maria Gonzalez-Hospital Italiano APC 3'UTR NM_000038.5:c.*86C>A p.(=) Hetero no r.(=) -
7 Unknown -/- g.5973418C>G - PMS2_000008 Maria Gonzalez-Hospital Italiano PMS2 15 NM_000535.5:c.2570G>C p.(Gly857Ala) Hetero no r.(?) -
7 Unknown -/- g.5982995C>T - PMS2_000017 Maria Gonzalez-Hospital Italiano PMS2 11i NM_000535.5:c.2007-4G>A p.? Hetero no r.spl? -
7 Unknown -/- g.5987144T>C - PMS2_000009 Maria Gonzalez-Hospital Italiano PMS2 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Hetero no r.(?) -
7 Unknown -/- g.5987357G>A - PMS2_000005 Maria Gonzalez-Hospital Italiano PMS2 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Hetero no r.(?) -
7 Unknown -/- g.5997349G>C - PMS2_000004 Maria Gonzalez-Hospital Italiano PMS2 7 NM_000535.5:c.780C>G p.(=) Hetero no r.(=) -
7 Unknown -/- g.5999091T>C - PMS2_000002 Maria Gonzalez-Hospital Italiano PMS2 6i NM_000535.5:c.705+17A>G p.(=) Hetero no r.(=) -
10 Unknown +/+ exon 6-10 deletion - BMPR1A_000004 Maria Gonzalez-Hospital Italiano BMPR1A 6-10 NM_004329.2:exon 6-10 deletion p.(?) Hetero N/A r.(?) -
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