Individual #00000637

Ethnic origin French-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     
0000000736 DNA SEQ-NG CEMIC - 22-mar-2018 Specific pathology panel BRCA1, BRCA2 9 Pablo Kalfayan-CEMIC
0000000739 DNA MLPA CEMIC CHEK2 1100delC also evaluated 17-may-2018 Specific pathology panel BRCA1, BRCA2 - Pablo Kalfayan-CEMIC



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.32316435G>A - BRCA2_000020 - - Pablo Kalfayan-CEMIC BRCA2 5'UTR NM_000059.3:c.-26G>A p.(=) Hetero no r.(=) -
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.32336191T>C - BRCA2_000003 - - Pablo Kalfayan-CEMIC BRCA2 10i NM_000059.3:c.1910-74T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Pablo Kalfayan-CEMIC BRCA2 11 NM_000059.3:c.3396A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32341276_32341279delTTAA - BRCA2_000002 - - Pablo Kalfayan-CEMIC BRCA2 11i NM_000059.3:c.6841+80_6841+83delTTAA p.(=) Hetero no r.(=) -
13 Unknown -/- g.32355095A>G - BRCA2_000026 - - Pablo Kalfayan-CEMIC BRCA2 14 NM_000059.3:c.7242A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Pablo Kalfayan-CEMIC BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Pablo Kalfayan-CEMIC BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Homo no r.(=) -
17 Unknown -/- g.43099914G>A - BRCA1_000012 - - Pablo Kalfayan-CEMIC BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Hetero no r.(=) -
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