Individual #00000510

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Carlos Vaccaro-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     
0000000577 DNA SEQ-NG CEMIC - 24-nov-2015 - MLH1, MSH2, MSH6, MUTYH, PMS2 22 Carlos Vaccaro-Hospital Italiano
0000000578 DNA MLPA Genia - 19-dec-2017 - EPCAM, MLH1, MSH2 0 Carlos Vaccaro-Hospital Italiano



Variants

22 entries on 1 page. Showing entries 1 - 22.
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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 Carlos Vaccaro-Hospital Italiano MUTYH 14i NM_001048171.1:c.1435-40C>G p.(=) Homo no r.(=) -
1 Unknown -/- g.45331833C>G - MUTYH_000004 Carlos Vaccaro-Hospital Italiano MUTYH 12 NM_001048171.1:c.972G>C p.(Gln324His) Hetero no r.(?) -
1 Unknown -/- g.45332883T>C - MUTYH_000003 Carlos Vaccaro-Hospital Italiano MUTYH 6i NM_001048171.1:c.462+35A>G p.(=) Homo no r.(=) -
2 Unknown ?/? g.47410162T>G - MSH2_000026 Carlos Vaccaro-Hospital Italiano MSH2 3 NM_000251.2:c.435T>G p.(Ile145Met) Hetero no r.(?) -
2 Unknown -/- g.47803319G>C - MSH6_000001 Carlos Vaccaro-Hospital Italiano MSH6 4I NM_000179.2:c.3173-101G>C p.(=) Homo no r.(=) -
2 Unknown -/- g.47803699A>T - MSH6_000002 Carlos Vaccaro-Hospital Italiano MSH6 5i NM_000179.2:c.3438+14A>T p.(=) Homo no r.(=) -
2 Unknown -/- g.47805736_47805739delCTAT nomenclatura equivalente c.3646+35_3646+38delATCT MSH6_000014 Carlos Vaccaro-Hospital Italiano MSH6 7i NM_000179.2:c.3646+29_3646+32delCTAT p.(=) Hetero no r.(=) nomenclatura equivalente c.3646+35_3646+38delATCT
2 Unknown -/- g.47805798T>C - MSH6_000004 Carlos Vaccaro-Hospital Italiano MSH6 7i NM_000179.2:c.3646+91T>C p.(=) Homo no r.(=) -
2 Unknown -/- g.47806412C>G - MSH6_000005 Carlos Vaccaro-Hospital Italiano MSH6 8i NM_000179.2:c.3802-40C>G p.(=) Homo no r.(=) -
3 Unknown -/- g.36993455G>A - MLH1_000013 Carlos Vaccaro-Hospital Italiano MLH1 5'UTR NM_000249.3:c.-93G>A p.(=) Hetero no r.(=) -
3 Unknown -/- g.37007142A>G - MLH1_000014 Carlos Vaccaro-Hospital Italiano MLH1 5i NM_000249.3:c.453+79A>G p.(=) Hetero no r.(=) -
3 Unknown -/- g.37012077A>G - MLH1_000004 Carlos Vaccaro-Hospital Italiano MLH1 8 NM_000249.3:c.655A>G p.(Ile219Val) Hetero no r.(?) -
3 Unknown -/- g.37020549T>C - MLH1_000015 Carlos Vaccaro-Hospital Italiano MLH1 11i NM_000249.3:c.1038+86T>C p.(=) Hetero no r.(=) -
3 Unknown -/- g.37025559A>G - MLH1_000005 Carlos Vaccaro-Hospital Italiano MLH1 11i NM_000249.3:c.1039-78A>G p.(=) Hetero no r.(=) -
3 Unknown -/- g.37042249A>G - MLH1_000007 Carlos Vaccaro-Hospital Italiano MLH1 14i NM_000249.3:c.1668-19A>G p.(=) Hetero no r.(=) -
3 Unknown -/- g.37048783C>T - MLH1_000008 Carlos Vaccaro-Hospital Italiano MLH1 17i NM_000249.3:c.1990-121C>T p.(=) Hetero no r.(=) -
7 Unknown -/- g.5982995C>T - PMS2_000017 Carlos Vaccaro-Hospital Italiano PMS2 11i NM_000535.5:c.2007-4G>A p.? Hetero no r.spl? -
7 Unknown -/- g.5987311G>T - PMS2_000006 Carlos Vaccaro-Hospital Italiano PMS2 11 NM_000535.5:c.1454C>A p.(Thr485Lys) Hetero no r.(?) -
7 Unknown -/- g.5987357G>A - PMS2_000005 Carlos Vaccaro-Hospital Italiano PMS2 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Hetero no r.(?) -
7 Unknown -/- g.5997349G>C - PMS2_000004 Carlos Vaccaro-Hospital Italiano PMS2 7 NM_000535.5:c.780C>G p.(=) Homo no r.(=) -
7 Unknown -/- g.5999091T>C - PMS2_000002 Carlos Vaccaro-Hospital Italiano PMS2 6i NM_000535.5:c.705+17A>G p.(=) Hetero no r.(=) -
7 Unknown -/- g.6003755G>A - PMS2_000001 Carlos Vaccaro-Hospital Italiano PMS2 4 NM_000535.5:c.288C>T p.(=) Hetero no r.(=) -
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