Individual #00017843

Reference -
Gender F
Geographic origin Austria
Geographic origin Peloponnese
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     
0000010618 43y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001955 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     
8 Parent #2 -/- g.31012237C>G - WRN_000108 rs78488552 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3785C>G r.(?) p.(Thr1262Arg)
10 Parent #2 ./. g.8701240C>T - chr10_000033 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.44219413C>T - EXT2_000047 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1439C>T, NM_001178083.1:c.1370C>T, NM_207122.1:c.1340C>T r.(?) p.(Pro480Leu), p.(Pro457Leu), p.(Pro447Leu)
11 Parent #2 ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
15 Parent #2 -/- g.40468866C>A - BUB1B_000008 rs138809057 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.573C>A r.(=) p.(=)
16 Parent #2 -/- g.68855966G>A - CDH1_000014 rs35187787 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
17 Parent #2 ?/? g.56787298T>G - RAD51C_000034  rs149331537 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.784T>G r.(?) p.(Leu262Val)
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.(=)
Legend