Individual #00001252

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar Breast cancer, Colon cancer, Ovarian cancer, Pancreatic cancer
Panel size 1
Diseases Pancreatic cancer
Owner name Lina Nuñez-Private Practice
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     
0000001491 DNA SEQ-NG Domeq&Lafage - 27-sep-2019 Multigenetic panel BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN, SMAD4, STK11, TP53 16 Lina Nuñez-Private Practice



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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.47783349G>A - MSH6_000015 - - Lina Nuñez-Private Practice MSH6 1 NM_000179.2:c.116G>A p.(Gly39Glu) Hetero no r.(?) -
3 Unknown -/- g.37012077A>G - MLH1_000004 - - Lina Nuñez-Private Practice MLH1 8 NM_000249.3:c.655A>G p.(Ile219Val) Hetero no r.(?) -
7 Unknown -/- g.5987144T>C - PMS2_000009 - - Lina Nuñez-Private Practice PMS2 11 NM_000535.5:c.1621A>G p.(Lys541Glu) Homo no r.(?) -
7 Unknown -/- g.5987357G>A - PMS2_000005 - - Lina Nuñez-Private Practice PMS2 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Hetero no r.(?) -
7 Unknown -/- g.5997349G>C - PMS2_000004 - - Lina Nuñez-Private Practice PMS2 7 NM_000535.5:c.780C>G p.(=) Homo no r.(=) -
7 Unknown -/- g.5999091T>C - PMS2_000002 - - Lina Nuñez-Private Practice PMS2 6i NM_000535.5:c.705+17A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Lina Nuñez-Private Practice BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero no r.(?) -
13 Unknown -/- g.32338162T>C - BRCA2_000001 - - Lina Nuñez-Private Practice BRCA2 11 NM_000059.3:c.3807T>C p.(=) Hetero no r.(=) -
16 Unknown -/- g.68737469C>T - CDH1_000002 - - Lina Nuñez-Private Practice CDH1 1i NM_004360.3:c.48+6C>T p.(=) Hetero no r.(=) -
16 Unknown -/- g.68823386T>C - CDH1_000014 - - Lina Nuñez-Private Practice CDH1 12i NM_004360.3:c.1937-13T>C p.(=) Hetero no r.(=) -
16 Unknown -/- g.68823538T>C - CDH1_000001 - - Lina Nuñez-Private Practice CDH1 13 NM_004360.3:c.2076T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.7676154G>C - TP53_000001 - - Lina Nuñez-Private Practice TP53 4 NM_000546.5:c.215C>G p.(Pro72Arg) Hetero no r.(?) -
17 Unknown -/- g.43092412C>T - BRCA1_000019 - - Lina Nuñez-Private Practice BRCA1 11 NM_007294.3:c.3119G>A p.(Ser1040Asn) Hetero no r.(?) -
17 Unknown -/-? g.61683635A>G - BRIP1_000003 - - Lina Nuñez-Private Practice BRIP1 20 NM_032043.2:c.3411T>C p.(=) Hetero no r.(=) -
17 Unknown -/-? g.61685986A>G - BRIP1_000002 - - Lina Nuñez-Private Practice BRIP1 19 NM_032043.2:c.2755T>C p.(Ser919Pro) Hetero no r.(?) -
17 Unknown -/-? g.61686104T>C - BRIP1_000001 - - Lina Nuñez-Private Practice BRIP1 19 NM_032043.2:c.2637A>G p.(=) Hetero no r.(=) -
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