Individual #00017878

Reference -
Gender F
Geographic origin Asia Minor
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     
0000010675 64y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001997 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
1 Parent #2 ?/? g.241672061C>T - FH_000001 rs587782215 - Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.580G>A r.(?) p.(Ala194Thr)
2 Parent #2 -?/-? g.47602347A>G - EPCAM_000009 - - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.426-26A>G r.(=) p.(=)
2 Parent #2 ?/? g.128046362A>C - ERCC3_000067 rs753495508 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.901T>G r.(?) p.(Ser301Ala)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
8 Parent #2 ?/? g.30941204T>G - WRN_000111 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1270-11T>G r.(=) p.(=)
8 Parent #2 ?/? g.145738676C>T - RECQL4_000006 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2389G>A - p.?
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
11 Parent #2 -?/-? g.108164137T>C - ATM_000116 rs140856217 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4709T>C r.(?) p.(Val1570Ala)
12 Parent #2 ?/? g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.716C>T r.(?) p.(Ala239Val)
13 Parent #2 ?/? g.103527717C>T - ERCC5_000084 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.3025C>T r.(?) p.(Arg1009Cys)
17 Parent #2 ?/? g.7576989_7576990dup - TP53_000014 rs776692311 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.919+29_919+30dup, NM_001126112.2:c.919+29_919+30dup, NM_001126113.2:c.919+29_919+30dup, NM_001126114.2:c.919+29_919+30dup, NM_001126115.1:c.523+29_523+30dup, NM_001126116.1:c.523+29_523+30dup, NM_001126117.1:c.523+29_523+30dup, NM_001126118.1:c.802+29_802+30dup, NM_001276695.1:c.802+29_802+30dup, NM_001276696.1:c.802+29_802+30dup, NM_001276697.1:c.442+29_442+30dup, NM_001276698.1:c.442+29_442+30dup, NM_001276699.1:c.442+29_442+30dup, NM_001276760.1:c.802+29_802+30dup, NM_001276761.1:c.802+29_802+30dup r.(=) p.(=)
Legend