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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008657 45y - - Lobular Invasive II N/A Positive Positive Negative - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.2202A>G r.(=) p.(=)
8 Parent #2 ./. g.90955501A>C - NBN_000015 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.2164T>G r.(?) p.(Trp722Gly)
9 Parent #2 ./. g.35079502G>A - FANCG_000006 rs35984312 - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.20C>T r.(?) p.(Ser7Phe)
16 Parent #2 ./. g.3647391G>A - SLX4_000036 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1672C>T r.(?) p.(Arg558Trp)
16 Parent #2 ./. g.50827417T>A - CYLD_000008 - - - - - - - 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 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2886C>G r.(?) p.(His962Gln)
18 Parent #1 ./. g.48584856_48584857del - SMAD4_000008 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.904+30_904+31del r.(=) p.(=)
18 Parent #2 ./. g.48584856_48584857dup - SMAD4_000009 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.904+30_904+31dup r.(=) p.(=)
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