Individual #00016822

Reference -
Gender F
Geographic origin Chrysa, Aridaia, Pella
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000009079 33y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000542 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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.(=)
7 Parent #2 ?/? g.6043387G>A - PMS2_000052 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.287C>T r.(?) p.(Ala96Val)
8 Parent #2 ./. g.71012788C>A - chr8_000010 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.90983460G>A - NBN_000017 rs34767364 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.643C>T r.(?) p.(Arg215Trp)
8 Parent #2 ?/? g.145738238G>A - RECQL4_000003 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2748C>T - p.?
9 Parent #2 ?/? g.98224110C>T - PTCH1_000040 rs367802633 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2703+28G>A, NM_001083602.1:c.2505+28G>A, NM_001083603.1:c.2700+28G>A, NM_001083604.1:c.2250+28G>A, NM_001083605.1:c.2250+28G>A, NM_001083606.1:c.2250+28G>A, NM_001083607.1:c.2250+28G>A r.(=) p.(=)
13 Parent #2 -/- g.32893344A>G - BRCA2_000074 rs28897700 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.198A>G r.(=) p.(=)
13 Parent #2 -/- g.32912750G>T - BRCA2_000026 rs28897727 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
16 Parent #2 -/- g.2134508G>T - TSC2_000074 rs45474795 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4285G>T, NM_001077183.1:c.4084G>T, NM_001114382.1:c.4216G>T r.(?) p.(Ala1429Ser), p.(Ala1362Ser), p.(Ala1406Ser)
22 Parent #2 +?/+? g.29120962T>A - CHEK2_000031 rs587782849 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.721+3A>T, NM_001257387.1:c.-186+3A>T, NM_007194.3:c.592+3A>T, NM_145862.2:c.592+3A>T r.spl? p.?
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