Individual #00017995

Reference -
Gender F
Geographic origin Albania
Geographic origin -
Population Albanian
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     
0000010877 38y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002248 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     
1 Parent #2 -?/-? g.17349074C>T - SDHB_000001 rs41273161 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.765+29G>A r.(=) p.(=)
4 Parent #2 -/- g.55602912G>A - KIT_000008 rs55817813 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2622G>A, NM_001093772.1:c.2610G>A r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 -?/-? g.55214295G>A - EGFR_000012 rs181831531 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.425-4G>A, NM_201282.1:c.425-4G>A, NM_201283.1:c.425-4G>A, NM_201284.1:c.425-4G>A r.spl? p.?
8 Parent #2 ?/? g.30915988A>G - WRN_000048 rs757791580 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.25A>G r.(?) p.(Thr9Ala)
9 Parent #2 ?/? g.97912337C>T - FANCC_000012 rs370346767 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.554G>A, NM_001243743.1:c.554G>A, NM_001243744.1:c.554G>A r.(?) p.(Arg185Gln)
11 Parent #2 ?/? g.108178576T>C - ATM_000067 rs368669649 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5675-48T>C r.(=) p.(=)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
14 Parent #2 ?/? g.95595803G>A - DICER1_000095 rs200212137 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.734+6C>T, NM_001271282.1:c.734+6C>T, NM_030621.3:c.734+6C>T, NM_177438.2:c.734+6C>T r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
17 Parent #2 ?/? g.74473698C>A - RHBDF2_000003 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.801+41G>T, NM_024599.5:c.888+41G>T r.(=) p.(=)
21 Parent #2 -/- g.36259125T>C - RUNX1_000006 rs199881885 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.270+15A>G, NM_001122607.1:c.270+15A>G, NM_001754.4:c.351+15A>G r.(=) p.(=)
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