Individual #00016615

Reference -
Gender F
Geographic origin Rizovouni, Preveza
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     
0000008781 42y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007048 DNA SEQ-NG-I 1 - 40 Despoina Kalfakakou



Variants

40 entries on 1 page. Showing entries 1 - 40.
Legend  

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     
2 Both (homozygous) ./. g.177042633A>C - chr2_000036 rs2072590 - - - - - - Despoina Kalfakakou - - - -
2 Both (homozygous) ?/? g.215672546G>T - BARD1_000010 rs6435862 - Germline - - - - Despoina Kalfakakou BARD1 - NM_000465.2:c.158+1590C>A r.(=) p.(=)
3 Parent #2 ?/? g.10106608T>C - FANCD2_000163 rs4019785 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2168+49T>C, NM_033084.3:c.2168+49T>C r.(=) p.(=)
3 Parent #2 ./. g.151899704T>A - chr3_000039 rs161792 - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.1734281A>G - chr4_000025 rs798767 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.1288547T>C - chr5_000051 rs2853676 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.22125964T>C - chr6_000092 rs4712653 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.29906691A>G - chr6_000094 rs2860580 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.29918073G>A - chr6_000089 rs9260377 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.29918099G>T - chr6_000090 rs2517713 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32428285C>T - chr6_000096 rs6903608 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32572224A>G - chr6_000093 rs9270912 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32572290G>A - chr6_000086 rs9270915 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32572292A>C - chr6_000087 rs9270916 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32572294G>T - chr6_000088 rs9270917 - - - - - - Despoina Kalfakakou - - - -
6 Both (homozygous) ./. g.32592775A>G - chr6_000085 rs9271669 - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32678999A>G - chr6_000084 rs9275572 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -/- g.30938692G>T - WRN_000138 rs4987238 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1149G>T r.(?) p.(Leu383Phe)
8 Parent #2 -/- g.30998961G>A - WRN_000137 rs140768346 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2983G>A r.(?) p.(Ala995Thr)
8 Parent #2 ./. g.128103937T>C - chr8_000051 rs1456315 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128323181T>C - chr8_000050 rs445114 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128424757G>T - chr8_000009 rs76573300 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128485038A>C - chr8_000053 rs1447295 - - - - - - Despoina Kalfakakou - - - -
8 Both (homozygous) ./. g.128517573A>G - chr8_000052 rs4242382 - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.128718068G>T - chr8_000054 rs9642880 - - - - - - Despoina Kalfakakou - - - -
9 Both (homozygous) ./. g.100556109A>G - chr9_000034 rs965513 - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ./. g.110888478G>T - chr9_000035 rs865686 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.2233574A>G - chr11_000044 rs7127900 - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.2233609G>A - chr11_000043 rs7112959 - - - - - - Despoina Kalfakakou - - - -
11 Both (homozygous) ./. g.56175671C>G - chr11_000046 rs1945213 - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.24127240C>T - chr13_000014 rs1572073 - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.32994777C>T - chr15_000028 rs4779585 - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.3640620G>T - SLX4_000016 rs138798067 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3019C>A r.(?) p.(Gln1007Lys)
16 Both (homozygous) ./. g.89755903A>G - chr16_000024 rs258322 - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 -/- g.89871703T>G - FANCA_000049 rs61757384 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.694A>C, NM_001018112.1:c.694A>C r.(=) p.(=)
16 Both (homozygous) ./. g.90066936A>C - chr16_000023 rs4785763 - - - - - - Despoina Kalfakakou - - - -
18 Both (homozygous) ./. g.46453463T>C - chr18_000007 rs4939827 - - - - - - Despoina Kalfakakou - - - -
19 Parent #2 ?/? g.45855740A>G - ERCC2_000130 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2046+24T>C r.(=) p.(=)
19 Both (homozygous) ./. g.51364623A>G - chr19_000020 rs2735839 - - - - - - Despoina Kalfakakou - - - -
22 Parent #2 -?/-? g.29092917G>A - CHEK2_000044 rs137853011 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1196C>T, NM_001257387.1:c.404C>T, NM_007194.3:c.1067C>T, NM_145862.2:c.1009-1056C>T r.(?), r.(=) p.(Ser399Leu), p.(Ser135Leu), p.(Ser356Leu), p.(=)
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