Individual #00000209

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Florencia Petracchi-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     

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Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000236 DNA SEQ-NG CEMIC - 20-mar-2017 - BRCA1, BRCA2 13 Florencia Petracchi-CEMIC



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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 - - Florencia Petracchi-CEMIC BRCA2 8i NM_000059.3:c.681+56C>T p.(=) Homo no r.(=) -
13 Unknown -/- g.32336191T>C - BRCA2_000003 - - Florencia Petracchi-CEMIC BRCA2 10i NM_000059.3:c.1910-74T>C p.(=) Homo no r.(=) -
13 Unknown ?/-? g.32344539A>G - BRCA2_000079 - - Florencia Petracchi-CEMIC BRCA2 11i NM_000059.3:c.6842-19A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Florencia Petracchi-CEMIC BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Florencia Petracchi-CEMIC BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Homo no r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Florencia Petracchi-CEMIC BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Homo no r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Florencia Petracchi-CEMIC BRCA1 13 NM_007294.3:c.4308T>C p.(=) Homo no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Homo no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Homo no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Homo no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.2311T>C p.(=) Homo no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.2082C>T p.(=) Homo no r.(=) -
17 Unknown -/- g.43124230A>G - BRCA1_000001 - - Florencia Petracchi-CEMIC BRCA1 1i NM_007294.3:c.-19-115T>C p.(=) Homo no r.(=) -
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