Individual #00017787

Reference -
Gender F
Geographic origin Elis
Geographic origin Corinth
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     
0000010486 45y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001765 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.121280590A>T - chr1_000019 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.48028077C>G - MSH6_000084 rs63750942 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2955C>G, NM_001281492.1:c.2565C>G, NM_001281493.1:c.2049C>G, NM_001281494.1:c.2049C>G r.(?) p.(Phe985Leu), p.(Phe855Leu), p.(Phe683Leu)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.176636958G>A - NSD1_000038 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1558G>A, NM_172349.2:c.751G>A r.(?) p.(Ala520Thr), p.(Ala251Thr)
11 Parent #2 ./. g.69328765G>A - chr11_000018 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.32912750G>T - BRCA2_000026 rs28897727 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
14 Parent #2 ./. g.45650888C>T - FANCM_000006 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4366C>T r.(?) p.(Arg1456Cys)
16 Parent #2 ./. g.2104487A>T - TSC2_000283 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.481+46A>T, NM_001077183.1:c.481+46A>T, NM_001114382.1:c.481+46A>T r.(=) p.(=)
16 Parent #2 ./. g.3640620G>T - SLX4_000016 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3019C>A r.(?) p.(Gln1007Lys)
17 Parent #2 ./. g.41228600G>A - BRCA1_000131 rs80356997 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4389C>T, NM_007297.3:c.4248C>T, NM_007298.3:c.1077C>T, NM_007299.3:c.1077C>T, NM_007300.3:c.4452C>T r.(=) p.(=)
17 Parent #2 ./. g.41245900T>G - BRCA1_000081 rs56012641 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1648A>C, NM_007297.3:c.1507A>C, NM_007298.3:c.787+861A>C, NM_007299.3:c.787+861A>C, NM_007300.3:c.1648A>C r.(?), r.(=) p.(Asn550His), p.(Asn503His), p.(=)
17 Parent #2 ./. g.41246092A>G - BRCA1_000083 rs55906931 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1456T>C, NM_007297.3:c.1315T>C, NM_007298.3:c.787+669T>C, NM_007299.3:c.787+669T>C, NM_007300.3:c.1456T>C r.(?), r.(=) p.(Phe486Leu), p.(Phe439Leu), p.(=)
17 Parent #2 ./. g.41251803T>C - BRCA1_000022 rs56187033 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.536A>G, NM_007297.3:c.395A>G, NM_007298.3:c.536A>G, NM_007299.3:c.536A>G, NM_007300.3:c.536A>G r.(?) p.(Tyr179Cys), p.(Tyr132Cys)
Legend