Individual #00017296

Reference -
Gender F
Geographic origin Achaia
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     
0000009727 38y - - Ductal Invasive II N/A Positive Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000966 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.47604154G>A - EPCAM_000024 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.493G>A r.(?) p.(Ala165Thr)
2 Parent #2 ./. g.233127938C>G - DIS3L2_000056 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1447C>G, NM_152383.4:c.1447C>G r.(?) p.(Arg483Gly)
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 ./. g.52441269C>T - BAP1_000001 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.501G>A r.(=) p.(=)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 ./. g.98211319A>G - PTCH1_000007 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
9 Parent #2 ./. g.135797337C>T - TSC1_000003 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.532G>A, NM_001162426.1:c.532G>A, NM_001162427.1:c.379G>A r.(?) p.(Val178Ile), p.(Val127Ile)
11 Parent #2 ./. g.108128246T>A - ATM_000027 rs34231402 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2289T>A r.(?) p.(Phe763Leu)
11 Parent #2 ./. g.108150365_108150367del - ATM_000032 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+30_3402+32del r.(=) p.(=)
12 Parent #2 ./. g.121434317C>T - HNF1A_000001 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
17 Parent #2 ./. g.59924572G>A - BRIP1_000005 rs4988345 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.517C>T r.(?) p.(Arg173Cys)
21 Parent #2 ./. g.36259125T>C - RUNX1_000006 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.270+15A>G, NM_001122607.1:c.270+15A>G, NM_001754.4:c.351+15A>G r.(=) p.(=)
Legend