Individual #00016837

Reference -
Gender F
Geographic origin Tripoli
Geographic origin -
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     
0000009095 36y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000562 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.45798269T>C - MUTYH_000016 rs200872702 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.625A>G, NM_001048172.1:c.586A>G, NM_001048173.1:c.583A>G, NM_001048174.1:c.583A>G, NM_001128425.1:c.667A>G, NM_012222.2:c.658A>G r.(?) p.(Ile209Val), p.(Ile196Val), p.(Ile195Val), p.(Ile223Val), p.(Ile220Val)
2 Parent #2 ?/? g.190738210T>C - PMS1_000017 rs201993417 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2474-12T>C, NM_001128143.1:c.2357-12T>C, NM_001128144.1:c.1988-12T>C r.(=) p.(=)
8 Parent #2 ?/? g.31004859G>T - WRN_000015 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3460-21G>T r.(=) p.(=)
15 Parent #2 -?/-? g.40453436G>A - BUB1B_000020 rs374433718 - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.15G>A r.(=) p.(=)
15 Parent #2 ?/? g.40477327G>T - BUB1B_000013 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.752-39G>T r.(=) p.(=)
15 Parent #2 +/+ g.89826380C>T - FANCI_000051 rs1347292940 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1597C>T, NM_018193.2:c.1597C>T r.(?) p.(Arg533*)
16 Parent #2 -/- g.2136794G>A - TSC2_000106 rs35282988 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4911G>A, NM_001077183.1:c.4710G>A, NM_001114382.1:c.4842G>A r.(=) p.(=)
16 Parent #2 -/- g.14015932C>T - ERCC4_000001 rs3136056 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.252C>T r.(=) p.(=)
16 Parent #2 -?/-? g.68853297G>C - CDH1_000013  rs35741240 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1680G>C r.(=) p.(=)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
22 Parent #2 -?/-? g.24145622C>T - SMARCB1_000001 rs184021903 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.601+13C>T, NM_003073.3:c.628+13C>T r.(=) p.(=)
22 Parent #2 ?/? g.30077384A>G - NF2_000015 rs186171173 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1575-44A>G, NM_016418.5:c.1575-44A>G, NM_181825.2:c.1575-44A>G, NM_181828.2:c.1449-44A>G, NM_181829.2:c.1452-44A>G, NM_181830.2:c.1326-44A>G, NM_181831.2:c.1326-44A>G, NM_181832.2:c.1575-44A>G, NM_181833.2:c.448-13357A>G r.(=) p.(=)
Legend