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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009750 40y - - N/A N/A N/A N/A N/A N/A N/A - - - 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 - - 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 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
2 Parent #2 -?/-? g.47702417dup - MSH2_000054 - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1582T>A r.(?) p.(Leu528Met)
11 Parent #2 ./. g.22646984C>T - FANCF_000001 rs61752920 - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
13 Parent #2 ./. g.32930673C>T - BRCA2_000059 rs28897744 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7544C>T r.(?) p.(Thr2515Ile)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.3633544C>T - SLX4_000059 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4740-33G>A r.(=) p.(=)
17 Parent #2 ./. g.66520112G>A - PRKAR1A_000001 rs28730841 - - - - - - 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