Individual #00016537

Reference -
Gender F
Geographic origin Xanthi
Geographic origin Ioannina
Population Greek
Consanguinity no
Remarks -
Panel size 3
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     
0000008657 45y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000242 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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     
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
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.(=)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
8 Parent #2 -?/-? g.90949286T>C - NBN_000014  rs200452212 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.2202A>G r.(=) p.(=)
8 Parent #2 ?/? g.90955501A>C - NBN_000015 - - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.2164T>G r.(?) p.(Trp722Gly)
9 Parent #2 -/- g.35079502G>A - FANCG_000006 rs35984312 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.20C>T r.(?) p.(Ser7Phe)
16 Parent #2 ?/? g.3647391G>A - SLX4_000036 rs372264472 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1672C>T r.(?) p.(Arg558Trp)
16 Parent #2 ?/? g.50827417T>A - CYLD_000008 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.2342-40T>A, NM_001042412.1:c.2342-40T>A, NM_015247.2:c.2351-40T>A r.(=) p.(=)
16 Parent #2 ?/? g.89825080G>C - FANCA_000041 rs1455455628 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2886C>G r.(?) p.(His962Gln)
18 Parent #1 ?/? g.48584856_48584857del - SMAD4_000008 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.904+30_904+31del r.(=) p.(=)
18 Parent #2 ?/? g.48584856_48584857dup - SMAD4_000009 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.904+30_904+31dup r.(=) p.(=)
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