Individual #00000161

Ethnic origin Spanish-Argentinian
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     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000183 DNA SEQ-NG BIOMAKERS Molecular Pathology & Research - 12-may-2017 Specific pathology BRCA1, BRCA2 19 Florencia Petracchi-CEMIC



Variants

19 entries on 1 page. Showing entries 1 - 19.
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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 - - Florencia Petracchi-CEMIC BRCA2 5'UTR NM_000059.3:c.-26G>A p.(=) Unknown no r.(=) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Florencia Petracchi-CEMIC BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Unknown no r.(?) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Florencia Petracchi-CEMIC BRCA2 11 NM_000059.3:c.3396A>G p.(=) Unknown no r.(=) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Florencia Petracchi-CEMIC BRCA2 11 NM_000059.3:c.4563A>G p.(=) Unknown no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Florencia Petracchi-CEMIC BRCA2 11 NM_000059.3:c.6513G>C p.(=) Unknown no r.(=) -
13 Unknown -/- g.32355095A>G - BRCA2_000026 - - Florencia Petracchi-CEMIC BRCA2 14 NM_000059.3:c.7242A>G p.(=) Unknown no r.(=) -
13 Unknown -/- g.32355250T>C - BRCA2_000012 - - Florencia Petracchi-CEMIC BRCA2 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Unknown no r.(?) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Florencia Petracchi-CEMIC BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Unknown no r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Florencia Petracchi-CEMIC BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Unknown no r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Florencia Petracchi-CEMIC BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Unknown no r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Florencia Petracchi-CEMIC BRCA1 13 NM_007294.3:c.4308T>C p.(=) Unknown no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Unknown no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Unknown no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Unknown no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.2311T>C p.(=) Unknown no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.2082C>T p.(=) Unknown no r.(=) -
17 Unknown -/- g.43093454C>T - BRCA1_000016 - - Florencia Petracchi-CEMIC BRCA1 11 NM_007294.3:c.2077G>A p.(Asp693Asn) Unknown no r.(?) -
17 Unknown -/- g.43099914G>A - BRCA1_000012 - - Florencia Petracchi-CEMIC BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Unknown no r.(=) -
17 Unknown -/- g.43124230A>G - BRCA1_000001 - - Florencia Petracchi-CEMIC BRCA1 1i NM_007294.3:c.-19-115T>C p.(=) Unknown no r.(=) -
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