Individual #00000104

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Claudia Martin-Hospital de Córdoba
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     
0000000114 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba - 17-feb-2017 - BRCA1, BRCA2 31 Claudia Martin-Hospital de Córdoba
0000000307 DNA MLPA Domeq&Lafage - 23-aug-2017 - BRCA1, BRCA2, CHEK2 - Claudia Martin-Hospital de Córdoba



Variants

31 entries on 1 page. Showing entries 1 - 31.
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 - - Claudia Martin-Hospital de Córdoba BRCA2 2 NM_000059.3:c.-26G>A p.(=) Hetero no r.(=) -
13 Unknown ?/- g.32316609C>G - BRCA2_000062 - - Claudia Martin-Hospital de Córdoba BRCA2 2i NM_000059.3:c.67+82C>G p.(=) Hetero no r.(=) RECLASSIFIED NOVEMBER 2020
13 Unknown -/- g.32326796T>A - BRCA2_000041 - - Claudia Martin-Hospital de Córdoba BRCA2 7i NM_000059.3:c.631+183T>A p.(=) Hetero no r.(=) -
13 Unknown -/- g.32329548C>T - BRCA2_000006 - - Claudia Martin-Hospital de Córdoba BRCA2 8i NM_000059.3:c.681+56C>T p.(=) Hetero no r.(=) -
13 Unknown -/- g.32331128G>A - BRCA2_000042 - - Claudia Martin-Hospital de Córdoba BRCA2 9i NM_000059.3:c.793+98G>A p.(=) Homo no r.(=) -
13 Unknown -/- g.32336191T>C - BRCA2_000003 - - Claudia Martin-Hospital de Córdoba BRCA2 10i NM_000059.3:c.1910-74T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Claudia Martin-Hospital de Córdoba BRCA2 11 NM_000059.3:c.3396A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Claudia Martin-Hospital de Córdoba BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Claudia Martin-Hospital de Córdoba BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32341276_32341279delTTAA - BRCA2_000002 - - Claudia Martin-Hospital de Córdoba BRCA2 11i NM_000059.3:c.6841+80_6841+83delTTAA p.(=) Hetero no r.(=) -
13 Unknown -/- g.32341387C>A - BRCA2_000043 - - Claudia Martin-Hospital de Córdoba BRCA2 11i NM_000059.3:c.6841+191C>A p.(=) Hetero no r.(=) -
13 Unknown -/- g.32355095A>G - BRCA2_000026 - - Claudia Martin-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7242A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32355250T>C - BRCA2_000012 - - Claudia Martin-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo no r.(?) -
13 Unknown -/- g.32356799G>A - BRCA2_000044 - - Claudia Martin-Hospital de Córdoba BRCA2 15i NM_000059.3:c.7617+190G>A p.(=) Homo no r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Claudia Martin-Hospital de Córdoba BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32376974A>C - BRCA2_000045 - - Claudia Martin-Hospital de Córdoba BRCA2 21i NM_000059.3:c.8754+183A>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32376978C>T - BRCA2_000046 - - Claudia Martin-Hospital de Córdoba BRCA2 21i NM_000059.3:c.8754+187C>T p.(=) Hetero no r.(=) -
17 Unknown -/- g.43047896T>C - BRCA1_000028 - - Claudia Martin-Hospital de Córdoba BRCA1 22i NM_007294.3:c.5407-193A>G p.(=) Hetero no r.(=) -
17 Unknown -/- g.43067763T>C - BRCA1_000027 - - Claudia Martin-Hospital de Córdoba BRCA1 16i NM_007294.3:c.4987-68A>G p.(=) Hetero no r.(=) -
17 Unknown -/- g.43067787T>C - BRCA1_000026 - - Claudia Martin-Hospital de Córdoba BRCA1 16i NM_007294.3:c.4987-92A>G p.(=) Hetero no r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Claudia Martin-Hospital de Córdoba BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero no r.(?) -
17 Unknown -/- g.43074584G>C - BRCA1_000025 - - Claudia Martin-Hospital de Córdoba BRCA1 14i NM_007294.3:c.4485-63C>G p.(=) Hetero no r.(=) -
17 Unknown -/- g.43074658A>T - BRCA1_000024 - - Claudia Martin-Hospital de Córdoba BRCA1 14i NM_007294.3:c.4485-137T>A p.(=) Hetero no r.(=) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Claudia Martin-Hospital de Córdoba BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Claudia Martin-Hospital de Córdoba BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Claudia Martin-Hospital de Córdoba BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Claudia Martin-Hospital de Córdoba BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Claudia Martin-Hospital de Córdoba BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Claudia Martin-Hospital de Córdoba BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero no r.(=) -
17 Unknown -/- g.43105117T>C - BRCA1_000023 - - Claudia Martin-Hospital de Córdoba BRCA1 1i NM_007294.3:c.213-161A>G p.(=) Hetero no r.(=) -
17 Unknown -/- g.43105117T>C - BRCA1_000023 - - Claudia Martin-Hospital de Córdoba BRCA1 5i NM_007294.3:c.213-161A>G p.(=) Hetero no r.(=) -
Legend   How to query