Individual #00016511

Reference -
Gender F
Geographic origin Spetses
Geographic origin Laconia
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     
0000008623 49y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000225 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.48018275A>G - MSH6_000013 rs1800933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
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)
2 Parent #2 -?/-? g.233198588A>G - DIS3L2_000029 rs757277629 - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-9467A>G, NM_152383.4:c.2049A>G r.(=) p.(=)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
15 Parent #2 -/- g.91304325A>G - BLM_000001 rs28385011 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.1722A>G r.(=) p.(=)
18 Parent #2 ?/? g.48593590_48593591del - SMAD4_000011 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1308+33_1308+34del r.(=) p.(=)
19 Parent #2 ?/? g.45873495C>T - ERCC2_000030 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.6-5G>A, NM_001130867.1:c.-72G>A r.spl?, r.(=) p.?, p.(=)
22 Parent #2 ?/? g.29130011G>A - CHEK2_000026 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.319+380C>T, NM_001257387.1:c.-459+380C>T, NM_007194.3:c.319+380C>T, NM_145862.2:c.319+380C>T r.(=) p.(=)
Legend