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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008958 45y - - Ductal In Situ II N/A Positive Positive Negative - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.658-24G>C r.(=) p.(=)
3 Parent #2 ./. g.10183789C>G - VHL_000005 - - - - - - - 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 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1404G>A - p.?
10 Parent #2 ./. g.72360527G>A - PRF1_000008 - - - - - - - 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 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
Legend