Individual #00000727

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Norma Rossi-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     
0000000847 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba - 11-oct-2018 Specific pathology panel BRCA1, BRCA2 16 Norma Rossi-Hospital de Córdoba



Variants

16 entries on 1 page. Showing entries 1 - 16.
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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 - - Norma Rossi-Hospital de Córdoba BRCA2 1i NM_000059.3:c.-26G>A p.(=) Hetero no r.(=) -
13 Unknown -/- g.32326796T>A - BRCA2_000041 - - Norma Rossi-Hospital de Córdoba BRCA2 7i NM_000059.3:c.631+183T>A p.(=) Hetero no r.(=) -
13 Unknown -/- g.32331128G>A - BRCA2_000042 - - Norma Rossi-Hospital de Córdoba BRCA2 9i NM_000059.3:c.793+98G>A p.(=) Homo no r.(=) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Norma Rossi-Hospital de Córdoba BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero no r.(?) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.3396A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32341276_32341279delTTAA - BRCA2_000002 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.6841+80_6841+83delTTAA p.(=) Hetero no r.(=) -
13 Unknown -/- g.32341387C>A - BRCA2_000043 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.6841+191C>A p.(=) Hetero no r.(=) -
13 Unknown -/- g.32355095A>G - BRCA2_000026 - - Norma Rossi-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7242A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32355250T>C - BRCA2_000012 - - Norma Rossi-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo no r.(?) -
13 Unknown -/- g.32356799G>A - BRCA2_000044 - - Norma Rossi-Hospital de Córdoba BRCA2 15i NM_000059.3:c.7617+190G>A p.(=) Homo no r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Norma Rossi-Hospital de Córdoba BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32376974A>C - BRCA2_000045 - - Norma Rossi-Hospital de Córdoba BRCA2 21i NM_000059.3:c.8754+183A>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32376978C>T - BRCA2_000046 - - Norma Rossi-Hospital de Córdoba BRCA2 21i NM_000059.3:c.8754+187C>T p.(=) Hetero no r.(=) -
17 Unknown -/- g.43099914G>A - BRCA1_000012 - - Norma Rossi-Hospital de Córdoba BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Hetero no r.(=) -
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