Individual #00016530

Reference -
Gender F
Geographic origin Zacharo, Elis
Geographic origin Kotylion, Arcadia
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     
0000008646 43y - - Ductal Invasive II N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000236 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
2 Parent #2 ./. g.29416152C>T - ALK_000028 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4801G>A r.(?) p.(Ala1601Thr)
5 Parent #2 ./. g.112154969C>T - APC_000023 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1240C>T, NM_001127510.2:c.1240C>T, NM_001127511.2:c.1186C>T r.(?) p.(Arg414Cys), p.(Arg396Cys)
7 Parent #2 ./. g.116422030C>G - MET_000001 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.3523-12C>G, NM_001127500.1:c.3577-12C>G r.(=) p.(=)
7 Parent #2 ./. g.148526807G>A - EZH2_000010 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.484+13C>T, NM_001203248.1:c.457+13C>T, NM_001203249.1:c.457+13C>T, NM_004456.4:c.484+13C>T, NM_152998.2:c.367+13C>T r.(=) p.(=)
8 Parent #2 ./. g.145739583C>T - RECQL4_000045 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1868G>A - p.?
10 Parent #2 ./. g.43613908A>T - RET_000003 rs77724903 - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
12 Parent #2 ./. g.88953605T>A - chr12_000009 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ./. g.45605405G>C - FANCM_000034 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.171G>C r.(?) p.(Leu57Phe)
14 Parent #2 ./. g.45620631A>G - FANCM_000012 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.950A>G r.(?) p.(Gln317Arg)
16 Parent #2 ./. g.68772240C>G - CDH1_000026 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.89C>G r.(?) p.(Pro30Arg)
16 Parent #2 ./. g.89815038G>A - FANCA_000026 rs1800348 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
17 Both (homozygous) ./. g.29563085_29563086insTG - NF1_000027 rs56874702 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3974+46_3974+47insTG, NM_001042492.2:c.3974+46_3974+47insTG r.(=) p.(=)
Legend