Individual #00001600

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Silvina Sisterna-Hospital de Comunidad
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     
0000001874 DNA SEQ-NG Fares Taie Panel (56 genes) APC, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICE1, FANCC, FANCM, FH, FLCN, GALNT12, HOXB13, KIT, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NYHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RINT1, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, XRCC2. 22-jan-2021 Multigenetic panel - 2 Silvina Sisterna-Hospital de Comunidad



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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     
13 Unknown -?/-? g.32326296C>T - BRCA2_000132 - - Silvina Sisterna-Hospital de Comunidad BRCA2 5i NM_000059.3:c.516+14C>T p.(=) Hetero no r.(=) -
19 Unknown -?/-? g.50399376G>T - POLD1_000009 - - Silvina Sisterna-Hospital de Comunidad POLD1 3 NM_001256849.1:c.208G>T p.(Val70Phe) Hetero no r.(?) -
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