Individual #00001341

Ethnic origin Polish-Ashkenazi
Reference -
Remarks (antec. ambos/explica cuadro)
Cuadro familiar -
Panel size 1
Diseases Neurofibroma
Owner name Dolores Mansilla-Instituto Roffo
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     
0000001581 DNA SEQ-NG CEMIC - 12-dec-2019 Specific pathology BRCA1, BRCA2 13 Dolores Mansilla-Instituto Roffo
0000001582 DNA MLPA CEMIC CHEK2 1100delC tested 12-dec-2019 Specific pathology BRCA1, BRCA2 - Dolores Mansilla-Instituto Roffo



Variants

13 entries on 1 page. Showing entries 1 - 13.
Legend   How to query  

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.32316435G>A - BRCA2_000020 - - Dolores Mansilla-Instituto Roffo BRCA2 5'UTR NM_000059.3:c.-26G>A p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Dolores Mansilla-Instituto Roffo BRCA2 11 NM_000059.3:c.3396A>G p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32341276_32341279delTTAA - BRCA2_000002 - - Dolores Mansilla-Instituto Roffo BRCA2 11i NM_000059.3:c.6841+80_6841+83delTTAA p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Dolores Mansilla-Instituto Roffo BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Dolores Mansilla-Instituto Roffo BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Homo BRCA1 r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Dolores Mansilla-Instituto Roffo BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Dolores Mansilla-Instituto Roffo BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Dolores Mansilla-Instituto Roffo BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Dolores Mansilla-Instituto Roffo BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Dolores Mansilla-Instituto Roffo BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Dolores Mansilla-Instituto Roffo BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Dolores Mansilla-Instituto Roffo BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero BRCA1 r.(=) -
17 Unknown +/+ g.43124028_43124029delCT - BRCA1_000010 - - Dolores Mansilla-Instituto Roffo BRCA1 2 NM_007294.3:c.68_69delAG p.(Glu23Valfs*17) Hetero N/A r.(?) -
Legend   How to query