Individual #00017557

Reference -
Gender F
Geographic origin Myrsini, Laconia
Geographic origin Finiki, Thesprotia
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     
0000010061 41y - - Ductal Invasive I N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001227 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
4 Parent #2 ./. g.55524280C>T - KIT_000027 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.67+32C>T, NM_001093772.1:c.67+32C>T r.(=) p.(=)
4 Parent #2 ./. g.55602836T>C - KIT_000043 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2597-51T>C, NM_001093772.1:c.2585-51T>C r.(=) p.(=)
7 Parent #2 ./. g.55268949A>G - EGFR_000025 rs55737335 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3015A>G r.(=) p.(=)
8 Parent #2 ./. g.128192965G>A - chr8_000016 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.88659672G>A - BMPR1A_000002 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
11 Parent #2 ./. g.68994464G>A - chr11_000028 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #1 ./. g.108151707_108151708insA - ATM_000092 rs3218681 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insA r.(=) p.(=)
11 Parent #2 ./. g.108151707_108151708insTA - ATM_000093 rs3218681 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insTA r.(=) p.(=)
16 Parent #2 ./. g.2114422C>T - TSC2_000048 rs45517180 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1593C>T, NM_001077183.1:c.1593C>T, NM_001114382.1:c.1593C>T r.(=) p.(=)
17 Parent #2 ./. g.74469914C>T - RHBDF2_000031 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1638+7G>A, NM_024599.5:c.1725+7G>A r.(=) p.(=)
17 Parent #2 ./. g.74475318C>T - RHBDF2_000021 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.314G>A, NM_024599.5:c.401G>A r.(?) p.(Gly105Glu), p.(Gly134Glu)
Legend