Individual #00001363

Ethnic origin Spanish-Itailian
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     
0000001612 DNA SEQ-NG Genia (deriv. Hospital Italiano) 26-feb-2019 Specific pathology EPCAM, MLH1, MSH2, MSH6, PMS2 11 Maria Laura Gonzalez-Hospital Italiano



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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.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.47466820G>A - MSH2_000003 - - Maria Laura Gonzalez-Hospital Italiano MSH2 10i NM_000251.2:c.1661+12G>A p.(=) Hetero no r.(=) -
3 Unknown -/- g.37012077A>G - MLH1_000004 - - Maria Laura Gonzalez-Hospital Italiano MLH1 8 NM_000249.3:c.655A>G p.(Ile219Val) Hetero no r.(?) -
3 Unknown -/- g.37050528G>A - MLH1_000062 - - Maria Laura Gonzalez-Hospital Italiano MLH1 19 NM_000249.3:c.2146G>A p.(Val716Met) Hetero 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.5973522A>G - PMS2_000021 - - Maria Laura Gonzalez-Hospital Italiano PMS2 15 NM_000535.5:c.2466T>C p.(=) Hetero no r.(=) -
7 Unknown -/- g.5982995C>T - PMS2_000017 - - Maria Laura 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 Laura Gonzalez-Hospital Italiano PMS2 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Hetero 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.(=) Hetero no r.(=) -
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