Individual #00017433

Reference -
Gender M
Geographic origin Chania
Geographic origin Rethymno
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, LPSRCM
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     
0000009899 53y - - - - Despoina Kalfakakou

Liposarcoma (LPSRCM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009900 31y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001100 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
3 Parent #2 ./. g.169082602A>G - chr3_000020 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 -/- g.32912560G>A - BRCA2_000025 rs28897724 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4068G>A r.(=) p.(=)
13 Parent #2 -?/-? g.48939015C>A - RB1_000029 rs115108608 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.862-15C>A r.(=) p.(=)
15 Parent #2 ./. g.78908076C>A - chr15_000016 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2129474G>A - TSC2_000067 rs140027616 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3284+45G>A, NM_001077183.1:c.3152+45G>A, NM_001114382.1:c.3284+45G>A r.(=) p.(=)
16 Parent #2 ?/? g.14029577G>C - ERCC4_000033 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1788G>C r.(=) p.(=)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
17 Parent #2 -?/-? g.41243801G>A - BRCA1_000059 rs587780801 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3747C>T, NM_007297.3:c.3606C>T, NM_007298.3:c.788-752C>T, NM_007299.3:c.788-752C>T, NM_007300.3:c.3747C>T r.(=) p.(=)
Legend