Individual #00016500

Reference -
Gender F
Geographic origin Athens
Geographic origin Sparti
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

BRCA/FH     

Subtype     

Owner     
0000008609 45y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000215 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
1 Parent #2 ?/? g.193121485A>G - CDC73_000009 - - Germline - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.908-25A>G r.(=) p.(=)
2 Parent #2 ?/? g.29446288G>A - ALK_000032 rs779601068 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3279C>T r.(=) p.(=)
2 Parent #2 ?/? g.128044511A>G - ERCC3_000017 - - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1110T>C r.(=) p.(=)
3 Parent #2 ./. g.169492075G>T - chr3_000011 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 +?/+? g.112175211T>A - APC_000005 rs1801155 Low-risk allele Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3920T>A, NM_001127510.2:c.3920T>A, NM_001127511.2:c.3866T>A r.(?) p.(Ile1307Lys), p.(Ile1289Lys)
12 Parent #2 ?/? g.121437082C>A - HNF1A_000014 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1513C>A r.(?) p.(His505Asn)
13 Parent #2 -/- g.32936853C>T - BRCA2_000062 rs183623188 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7976+23C>T r.(=) p.(=)
16 Parent #2 ?/? g.68835823C>T - CDH1_000007 rs33932809 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.387+27C>T r.(=) p.(=)
Legend