Individual #00000631

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Pablo Kalfayan-CEMIC
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     
0000000728 DNA SEQ-NG CEMIC - 16-mar-2018 Specific pathology panel BRCA1, BRCA2 12 Pablo Kalfayan-CEMIC



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.32329548C>T - BRCA2_000006 - - Pablo Kalfayan-CEMIC BRCA2 8i NM_000059.3:c.681+56C>T p.(=) Hetero no r.(=) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Pablo Kalfayan-CEMIC BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero no r.(?) -
13 Unknown -/- g.32336191T>C - BRCA2_000003 - - Pablo Kalfayan-CEMIC BRCA2 10i NM_000059.3:c.1910-74T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Pablo Kalfayan-CEMIC BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Pablo Kalfayan-CEMIC BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Pablo Kalfayan-CEMIC BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero no r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Pablo Kalfayan-CEMIC BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Pablo Kalfayan-CEMIC BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Pablo Kalfayan-CEMIC BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Pablo Kalfayan-CEMIC BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Pablo Kalfayan-CEMIC BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Pablo Kalfayan-CEMIC BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero no r.(=) -
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