Individual #00017435

Reference -
Gender F
Geographic origin Crete
Geographic origin Thavmakos, Phthiotis
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009902 32y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001102 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.17355218A>G - SDHB_000003 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ./. g.47600921G>C - EPCAM_000025 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.185-26G>C r.(=) p.(=)
2 Parent #2 ./. g.190742024A>G - PMS1_000018 rs61748257 - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2661A>G, NM_001128143.1:c.2544A>G, NM_001128144.1:c.2175A>G r.(=) p.(=)
5 Parent #2 ./. g.1315673T>C - chr5_000022 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.30948350G>A - WRN_000069 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1721G>A r.(?) p.(Gly574Glu)
12 Parent #2 ./. g.121434310G>A - HNF1A_000034 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-34G>A r.(=) p.(=)
13 Parent #2 ./. g.32907407A>G - BRCA2_000034 rs28897710 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1792A>G r.(?) p.(Thr598Ala)
16 Parent #2 ./. g.2127648G>A - TSC2_000199 rs45517275 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2887G>A, NM_001077183.1:c.2837+1062G>A, NM_001114382.1:c.2887G>A r.(?), r.(=) p.(Val963Met), p.(=)
16 Parent #2 ./. g.89815038G>A - FANCA_000026 rs1800348 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
16 Parent #2 ./. g.89882393C>T - FANCA_000129 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.81G>A, NM_001018112.1:c.81G>A r.(=) p.(=)
Legend