Individual #00017349

Reference -
Gender F
Geographic origin Galaxidi, Phocis
Geographic origin Trizonia, Phocis
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     
0000009797 39y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001019 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
4 Parent #2 ?/? g.55593538A>G - KIT_000030 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1648-44A>G, NM_001093772.1:c.1636-44A>G r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 -/- g.30954294C>T - WRN_000030 rs148286708 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1909C>T r.(?) p.(Arg637Trp)
8 Parent #2 ?/? g.145738644C>T - RECQL4_000070 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2421G>A - p.?
11 Parent #2 ?/? g.95551110G>T - CEP57_000003 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.594+43G>T, NM_001243777.1:c.621+43G>T, NM_014679.4:c.621+43G>T r.(=) p.(=)
16 Parent #2 ?/? g.3645585C>T - SLX4_000090 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2013+21G>A r.(=) p.(=)
17 Parent #2 -?/-? g.7577487G>A - TP53_000019 rs17881780 - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.782+12C>T, NM_001126112.2:c.782+12C>T, NM_001126113.2:c.782+12C>T, NM_001126114.2:c.782+12C>T, NM_001126115.1:c.386+12C>T, NM_001126116.1:c.386+12C>T, NM_001126117.1:c.386+12C>T, NM_001126118.1:c.665+12C>T, NM_001276695.1:c.665+12C>T, NM_001276696.1:c.665+12C>T, NM_001276697.1:c.305+12C>T, NM_001276698.1:c.305+12C>T, NM_001276699.1:c.305+12C>T, NM_001276760.1:c.665+12C>T, NM_001276761.1:c.665+12C>T r.(=) p.(=)
22 Parent #2 ?/? g.29130520C>T - CHEK2_000035 rs141568342 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.190G>A, NM_001257387.1:c.-588G>A, NM_007194.3:c.190G>A, NM_145862.2:c.190G>A r.(=), r.(?) p.(=), p.(Glu64Lys)
X Parent #2 -/- g.14863136A>G - FANCB_000015 rs142959373 - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1769T>C, NM_152633.2:c.1769T>C r.(?) p.(Phe590Ser)
X Parent #2 ?/? g.132826572T>C - GPC3_000004 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.1236-50A>G, NM_001164618.1:c.1119-50A>G, NM_001164619.1:c.1005-50A>G, NM_004484.3:c.1167-50A>G r.(=) p.(=)
Legend