Individual #00017252

Reference -
Gender F
Geographic origin Xylokastro
Geographic origin Thessaloniki
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, OVCA
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     
0000009656 62y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000009657 47y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000911 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
3 Parent #2 +/+ g.37035069del - MLH1_000076  rs63749816 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.31del, NM_001167617.1:c.-486del, NM_001167618.1:c.-915del, NM_001167619.1:c.-828del, NM_001258271.1:c.31del, NM_001258273.1:c.-602del, NM_001258274.1:c.-1065del r.(?), r.(=) p.(Leu11Trpfs*6), p.(=)
3 Parent #2 -?/-? g.37067096_37067103del - MLH1_000058 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
10 Parent #2 ?/? g.72358657C>T - PRF1_000028 - - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.820G>A, NM_005041.4:c.820G>A r.(?) p.(Ala274Thr)
10 Parent #2 -?/-? g.89711961G>A - PTEN_000003 rs568851024 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.579G>A r.(=) p.(=)
11 Parent #2 ?/? g.108100098C>T - ATM_000074 rs56324032 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.331+48C>T r.(=) p.(=)
15 Parent #2 ?/? g.89843508_89843509del - FANCI_000068 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2804-23_2804-22del, NM_018193.2:c.2624-23_2624-22del r.(=) p.(=)
Legend