Individual #00121177

ID_report BR1107
Reference -
Remarks -
Gender -
Consanguinity -
Country Argentina
Population -
Age at death -
VIP 0
Data_av -
Treatment -
Panel size 1
Diseases cancer, breast
Owner name Angela Solano & F Cardoso
Database submission license No license selected
Created by Angela Solano & F Cardoso


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000121751 DNA SEQ - - BRCA1, BRCA2 9 Angela Solano & F Cardoso



Variants

9 entries on 1 page. Showing entries 1 - 9.
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Chr     

Allele     

Effect     

Classification method     

Clinical classification     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

RNA change     

Protein     

P-domain     

Exon_old     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Legacy protein change     

Protein level     
13 Unknown -/- - benign g.32890572G>A g.32316435G>A - - BRCA2_000005 - - - rs1799943 Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - 2 NM_000059.3:c.-26G>A - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown -/- - benign g.32906729A>C g.32332592A>C - - BRCA2_000052 - - - rs144848 Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - 10 NM_000059.3:c.1114A>C - r.(?) p.(His372Asn) - - - - - - - - - - - - - - - - - - -
13 Unknown -/- - benign g.32911888A>G g.32337751A>G - - BRCA2_000089 - - - rs1801406 Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - 11 NM_000059.3:c.3396A>G - r.(?) p.(Lys1132=) - - - - - - - - - - - - - - - - - - -
13 Unknown -/- - benign g.32915413_32915416del g.32341276_32341279del 6841+80_6841+83delTTAA - BRCA2_000168 - - - rs11571661 Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - 11i NM_000059.3:c.6841+80_6841+83del - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown -/- - benign g.32929232A>G g.32355095A>G - - BRCA2_000183 - - - rs1799955 Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - 14 NM_000059.3:c.7242A>G - r.(?) p.(Ser2414=) - - - - - - - - - - - - - - - - - - -
13 Unknown -/- - benign g.32936646T>C g.32362509T>C - - BRCA2_000233 - - - rs9534262 Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - 16i NM_000059.3:c.7806-14T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
13 Unknown -/- - benign g.32953388T>C g.32379251T>C - - BRCA2_001081 - - - rs4942486 Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA2 - - - - 21i NM_000059.3:c.8755-66T>C - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
17 Parent #1 +/. - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_002986 - - - - Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - _1_24_ NM_007294.3:c.-232_*1383{0} - r.0 p.0 - - - - - - - - - - - - - - - - - - -
17 Unknown -/- - benign g.41251931G>A g.43099914G>A - - BRCA1_000085 - - - rs799923 Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso BRCA1 - - - - 7i NM_007294.3:c.442-34C>T - r.(?) p.(=) - - - - - - - - - - - - - - - - - - -
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