Individual #00016507

Reference -
Gender F
Geographic origin Izmir
Geographic origin Patra
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     
0000008619 52y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000222 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     
2 Parent #2 ./. g.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 -?/-? g.47643476C>T - MSH2_000010 rs4987189 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.984C>T, NM_001258281.1:c.786C>T r.(=) p.(=)
2 Parent #2 -/- g.48018275A>G - MSH6_000013 rs1800933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
10 Parent #2 ./. g.64580528T>G - chr10_000004 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
16 Parent #2 -/- g.3632347T>C - SLX4_000011 rs111738042 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5501A>G r.(?) p.(Asn1834Ser)
17 Parent #2 -?/-? g.29657461G>A - NF1_000072 rs141077224 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.5694G>A, NM_001042492.2:c.5757G>A r.(=) p.(=)
19 Parent #2 ?/? g.45867013C>T - ERCC2_000025 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1106G>A, NM_001130867.1:c.1034G>A r.(?) p.(Arg369His), p.(Arg345His)
Legend