Individual #00001726

Ethnic origin German
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Marcela Lopez - Instituto Donna
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     

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Variants found     

Owner     
0000002005 DNA SEQ-NG Argenomics "Panel Argenomics (47 genes) APC ATM AXIN2 BARD1 BMPR1A BRCA1 BRCA2 BRIP1 CDH1 CDK4 CDKN2A CHEK2 CTNNA1 DICER1 EPCAM GREM1 HOXB13 KIT MEN1 MLH1 MSH2 MSH3 MSH6 MUTYH NBN NF1 NTHL1 PALB2 PDGFRA PMS2 POLD1 POLE PTEN RAD50 RAD51C RAD51D SDHA SDHB SDHC SDHD SMAD4 SMARCA4 STK11 TP53 TSC1 TSC2 VHL" 25-mar-2019 Multigenetic panel - 1 Marcela Lopez - Instituto Donna



Variants

1 entry on 1 page. Showing entry 1.
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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     
17 Unknown +/+ g.31223481_31223482insTAGTT - NF1_000011 - - Marcela Lopez - Instituto Donna NF1 16 NM_000267.3:c.1759_1760insTAGTT p.(Ser587Ilefs*20) Hetero N/A r.(?) -
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