Individual #00016392

Reference -
Gender F
Geographic origin Santorini
Geographic origin Evia
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     
0000008444 43y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000110 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.190719607G>A - PMS1_000009 rs151325573 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1609G>A, NM_001128143.1:c.1492G>A, NM_001128144.1:c.1609G>A r.(?) p.(Glu537Lys), p.(Glu498Lys)
11 Parent #2 ?/? g.95532375A>G - CEP57_000005 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
12 Parent #2 ?/? g.121426790G>A - HNF1A_000004 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.481G>A r.(?) p.(Ala161Thr)
14 Parent #2 ?/? g.95574865C>T - DICER1_000004 - - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.2257-25G>A, NM_001271282.1:c.2257-25G>A, NM_030621.3:c.2257-25G>A, NM_177438.2:c.2257-25G>A r.(=) p.(=)
14 Parent #2 -?/-? g.95584095A>C - DICER1_000005 rs192490028 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1377-4T>G, NM_001271282.1:c.1377-4T>G, NM_030621.3:c.1377-4T>G, NM_177438.2:c.1377-4T>G r.spl? p.?
15 Parent #2 ?/? g.89836140G>A - FANCI_000007 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2170-33G>A, NM_018193.2:c.2170-33G>A r.(=) p.(=)
15 Parent #2 -/- g.91293113G>A - BLM_000019 rs28903082 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.615G>A r.(=) p.(=)
17 Parent #2 ?/? g.29586053C>T - NF1_000032 rs1555618639 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4273C>T, NM_001042492.2:c.4336C>T r.(?) p.(Leu1425Phe), p.(Leu1446Phe)
19 Parent #2 ?/? g.45858160_45858161del - ERCC2_000007 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1544-52_1544-51del, NM_001130867.1:c.*3957_*3958del r.(=) p.(=)
Legend