Individual #00017857

Reference -
Gender F
Geographic origin Orestias, Evros
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     
0000010638 48y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001698 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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.128037999C>T - ERCC3_000016 rs4150457 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1527+24G>A r.(=) p.(=)
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.(=)
5 Parent #2 +?/+? g.112175211T>A - APC_000005 rs1801155 Low-risk allele Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3920T>A, NM_001127510.2:c.3920T>A, NM_001127511.2:c.3866T>A r.(?) p.(Ile1307Lys), p.(Ile1289Lys)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
13 Parent #2 ?/? g.49047451A>G - RB1_000006 rs4151610 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 -/- g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
16 Parent #2 ?/? g.23649273G>A - PALB2_000061 rs200048921 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.109C>T r.(?) p.(Arg37Cys)
17 Parent #2 -/- g.29554205A>T - NF1_000016 rs141082540 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2252-31A>T, NM_001042492.2:c.2252-31A>T, NM_001128147.2:c.*5197A>T r.(=) p.(=)
Legend