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     

BRCA/FH     

Subtype     

Owner     
0000009727 38y - - - - 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.
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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 rs146685071 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.493G>A r.(?) p.(Ala165Thr)
2 Parent #2 -?/-? g.233127938C>G - DIS3L2_000056 rs186865544 - Germline - - - - 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 - - Germline - - - - 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 rs148631953 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.501G>A r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - 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 rs118203395 - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2289T>A r.(?) p.(Phe763Leu)
11 Parent #2 -?/-? g.108150365_108150367del - ATM_000032 rs545376366 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+30_3402+32del r.(=) p.(=)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
15 Parent #2 -/- g.40462846T>C - BUB1B_000007 rs28989189 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
17 Parent #2 -?/-? g.59924572G>A - BRIP1_000005 rs4988345 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.517C>T r.(?) p.(Arg173Cys)
21 Parent #2 -/- g.36259125T>C - RUNX1_000006 rs199881885 - Germline - - - - 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.(=)
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