Individual #00016567

Reference -
Gender F
Geographic origin Sparti
Geographic origin Argos
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000008703 40y - - - - Despoina Kalfakakou

Breast-ovarian cancer, familial, susceptibility to, 3 (BROVCA3)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000008704 40y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000270 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.213296834C>A - chr2_000010 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ?/? g.37067083A>C - MLH1_000002 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-45A>C, NM_001167617.1:c.745-45A>C, NM_001167618.1:c.316-45A>C, NM_001167619.1:c.316-45A>C, NM_001258271.1:c.1039-45A>C, NM_001258273.1:c.316-45A>C, NM_001258274.1:c.316-45A>C r.(=) p.(=)
3 Parent #2 ./. g.151899662G>A - chr3_000009 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 -?/-? g.112177075G>A - APC_000003 rs761186363 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.5784G>A, NM_001127510.2:c.5784G>A, NM_001127511.2:c.5730G>A r.(=) p.(=)
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
6 Parent #2 ?/? g.35425721C>T - FANCE_000002 rs139600847 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.929C>T r.(?) p.(Pro310Leu)
6 Parent #2 -/- g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
8 Parent #2 ?/? g.145738566C>T - RECQL4_000037 rs36115640 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+35G>A - p.?
9 Parent #2 -?/-? g.135781022A>G - TSC1_000016 rs771341361 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1943T>C, NM_001162426.1:c.1940T>C, NM_001162427.1:c.1790T>C r.(?) p.(Val648Ala), p.(Val647Ala), p.(Val597Ala)
11 Parent #2 -?/-? g.108155240G>A - ATM_000063 rs3218709 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3993+40G>A r.(=) p.(=)
11 Parent #2 ?/? g.108164246_108164247del - ATM_000064 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.4776+42_4776+43del r.(=) p.(=)
16 Parent #2 -/- g.68847350C>T - CDH1_000012 rs61756284 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1272C>T r.(=) p.(=)
16 Parent #2 ?/? g.89805494C>A - FANCA_000065 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4167+47G>T r.(=) p.(=)
17 Parent #2 ?/? g.17127452G>A - FLCN_000014 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.402C>T, NM_144997.5:c.402C>T r.(=) p.(=)
17 Parent #2 +/+ g.56780562C>T - RAD51C_000005 rs200293302 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.577C>T r.(?) p.(Arg193*)
Legend