Individual #00016735

Reference -
Gender F
Geographic origin Trikala
Geographic origin -
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     
0000008958 45y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000391 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.47698095G>A - MSH2_000025 rs17218356 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1662-9G>A, NM_001258281.1:c.1464-9G>A r.(=) p.(=)
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
2 Parent #2 ?/? g.128047101C>G - ERCC3_000005 rs4150413 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-24G>C r.(=) p.(=)
3 Parent #2 ?/? g.10183789C>G - VHL_000005 rs781063331 - Germline - - - - Despoina Kalfakakou VHL - NM_000551.3:c.258C>G, NM_198156.2:c.258C>G r.(=) p.(=)
3 Parent #2 ./. g.87110642G>A - chr3_000007 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -?/-? g.145740613C>T - RECQL4_000072 rs371046973 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1404G>A - p.?
10 Parent #2 ?/? g.72360527G>A - PRF1_000008 rs181323749 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.132C>T, NM_005041.4:c.132C>T r.(=) p.(=)
11 Parent #2 -?/-? g.108175463A>T - ATM_000015 rs1801673 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
Legend