Individual #00017310

Reference -
Gender F
Geographic origin Crete
Geographic origin Kefalonia
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     
0000009750 40y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000977 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     
2 Parent #2 ?/? g.47635608_47635610del - MSH2_000056 rs267607919 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.280_282del, NM_001258281.1:c.82_84del r.(?) p.(Leu94del), p.(Leu28del)
2 Parent #2 -/- g.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
2 Parent #2 -?/-? g.47702417dup - MSH2_000054 rs267607992 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+8dup, NM_001258281.1:c.1807+8dup r.(=) p.(=)
4 Parent #2 ?/? g.55573494C>A - KIT_000002 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1115+41C>A, NM_001093772.1:c.1115+41C>A r.(=) p.(=)
8 Parent #2 ?/? g.30946411T>A - WRN_000004 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1582T>A r.(?) p.(Leu528Met)
11 Parent #2 -/- g.22646984C>T - FANCF_000001 rs61752920 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
13 Parent #2 -/- g.32930673C>T - BRCA2_000059 rs28897744 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7544C>T r.(?) p.(Thr2515Ile)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ?/? g.3633544C>T - SLX4_000059 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4740-33G>A r.(=) p.(=)
17 Parent #2 ?/? g.66520112G>A - PRKAR1A_000001 rs28730841 - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.441-45G>A, NM_001276290.1:c.441-45G>A, NM_002734.4:c.441-45G>A, NM_212471.2:c.441-45G>A, NM_212472.2:c.441-45G>A r.(=) p.(=)
Legend