Individual #00001117

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Maria Laura 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     
0000001334 DNA SEQ-NG Dasa Genómica - Genia;Hospital Italiano de Buenos Aires - 3-abr-2019 Specific pathology EPCAM, MLH1, MSH2, MSH6, PMS2 11 Maria Laura Gonzalez-Hospital Italiano
0000001335 DNA MLPA Dasa Genómica - Genia;Hospital Italiano de Buenos Aires - 3-abr-2019 Specific pathology APC, MUTYH - Maria Laura Gonzalez-Hospital Italiano
0000001336 DNA SEQ-NG Dasa Genómica - Genia;Hospital Italiano de Buenos Aires - 3-abr-2019 Specific pathology APC, MUTYH 7 Maria Laura Gonzalez-Hospital Italiano



Variants

18 entries on 1 page. Showing entries 1 - 18.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
2 Unknown -/- g.47373967T>C - EPCAM_000001 - - Maria Laura Gonzalez-Hospital Italiano EPCAM 3 NM_002354.2:c.344T>C p.(Met115Thr) Hetero no r.(?) -
2 Unknown -/- g.47386731T>C - EPCAM_000003 - - Maria Laura Gonzalez-Hospital Italiano EPCAM 3'UTR NM_002354.2:c.*118T>C p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022
2 Unknown -/- g.47403411C>G - MSH2_000002 - - Maria Laura Gonzalez-Hospital Italiano MSH2 1i NM_000251.2:c.211+9C>G p.(=) Hetero no r.(=) -
2 Unknown -/- g.47466649A>T - MSH2_000017 - - Maria Laura Gonzalez-Hospital Italiano MSH2 9i NM_000251.2:c.1511-9A>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.47466820G>A - MSH2_000003 - - Maria Laura Gonzalez-Hospital Italiano MSH2 10i NM_000251.2:c.1661+12G>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47795976T>C - MSH6_000010 - - Maria Laura Gonzalez-Hospital Italiano MSH6 3 NM_000179.2:c.540T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47798625C>T - MSH6_000018 - - Maria Laura Gonzalez-Hospital Italiano MSH6 4 NM_000179.2:c.642C>T p.(=) Hetero no r.(=) -
5 Unknown -/- g.112827157T>C - APC_000006 - - Maria Laura Gonzalez-Hospital Italiano APC 11 NM_000038.5:c.1458T>C p.(=) Homo no r.(=) -
5 Unknown -/- g.112828864G>A - APC_000007 - - Maria Laura Gonzalez-Hospital Italiano APC 13 NM_000038.5:c.1635G>A p.(=) Homo no r.(=) -
5 Unknown -/- g.112840073G>A - APC_000008 - - Maria Laura Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.4479G>A p.(=) Homo no r.(=) -
5 Unknown -/- g.112840628G>A - APC_000009 - - Maria Laura Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.5034G>A p.(=) Homo no r.(=) -
5 Unknown -/- g.112840862T>G - APC_000013 - - Maria Laura Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.5268T>G p.(=) Homo no r.(=) -
5 Unknown -/- g.112841059T>A - APC_000002 - - Maria Laura Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.5465T>A p.(Val1822Asp) Homo no r.(?) -
5 Unknown -/- g.112841474G>A - APC_000011 - - Maria Laura Gonzalez-Hospital Italiano APC 15 NM_000038.5:c.5880G>A p.(=) Homo no r.(=) -
7 Unknown -/- g.5973418C>G - PMS2_000008 - - Maria Laura Gonzalez-Hospital Italiano PMS2 15 NM_000535.5:c.2570G>C p.(Gly857Ala) Hetero no r.(?) -
7 Unknown -/- g.5987144T>C - PMS2_000009 - - Maria Laura Gonzalez-Hospital Italiano PMS2 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Homo no r.(?) -
7 Unknown -/- g.5987357G>A - PMS2_000005 - - Maria Laura Gonzalez-Hospital Italiano PMS2 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Hetero no r.(?) -
7 Unknown -/- g.5997349G>C - PMS2_000004 - - Maria Laura Gonzalez-Hospital Italiano PMS2 7 NM_000535.5:c.780C>G p.(=) Homo no r.(=) -
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