Individual #00017036

Reference -
Gender F
Geographic origin Thessaloniki
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     
0000009369 52y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007515 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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     
2 Parent #2 -?/-? g.29445192G>A - ALK_000008 rs79325200 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3515+18C>T r.(=) p.(=)
2 Parent #2 ?/? g.48025707C>T - MSH6_000032 - - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.628-43C>T, NM_001281492.1:c.238-43C>T, NM_001281493.1:c.-279-43C>T, NM_001281494.1:c.-275-47C>T r.(=) p.(=)
9 Parent #2 -?/-? g.135771682C>T - TSC1_000080 rs140352085 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.3435G>A, NM_001162426.1:c.3432G>A, NM_001162427.1:c.3282G>A r.(=) p.(=)
9 Parent #2 -/- g.135776958T>G - TSC1_000076 rs200908079 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2502+18A>C, NM_001162426.1:c.2499+18A>C, NM_001162427.1:c.2349+18A>C r.(=) p.(=)
10 Parent #2 -?/-? g.72358722T>C - PRF1_000014 rs28933375 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
11 Parent #2 -?/-? g.61213555C>T - SDHAF2_000003 rs113652589 - Germline - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.*12C>T r.(=) p.(=)
13 Parent #2 ?/? g.103510680G>A - ERCC5_000095 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.584G>A r.(?) p.(Ser195Asn)
15 Parent #2 ./. g.78908076C>A - chr15_000016 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -?/-? g.91298044G>A - BLM_000037 rs779461745 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.963G>A r.(=) p.(=)
15 Parent #2 -?/-? g.91354640T>G - BLM_000007 rs183176301 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4076+4T>G r.spl? p.?
17 Parent #2 -/- g.41245900T>G - BRCA1_000081 rs56012641 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1648A>C, NM_007297.3:c.1507A>C, NM_007298.3:c.787+861A>C, NM_007299.3:c.787+861A>C, NM_007300.3:c.1648A>C r.(?), r.(=) p.(Asn550His), p.(Asn503His), p.(=)
17 Parent #2 -/- g.41246092A>G - BRCA1_000083 rs55906931 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1456T>C, NM_007297.3:c.1315T>C, NM_007298.3:c.787+669T>C, NM_007299.3:c.787+669T>C, NM_007300.3:c.1456T>C r.(?), r.(=) p.(Phe486Leu), p.(Phe439Leu), p.(=)
17 Parent #2 -/- g.41251803T>C - BRCA1_000022 rs56187033 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.536A>G, NM_007297.3:c.395A>G, NM_007298.3:c.536A>G, NM_007299.3:c.536A>G, NM_007300.3:c.536A>G r.(?) p.(Tyr179Cys), p.(Tyr132Cys)
22 Parent #2 ?/? g.29107873G>A - CHEK2_000003 rs374434631 - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.921+24C>T, NM_001257387.1:c.129+24C>T, NM_007194.3:c.792+24C>T, NM_145862.2:c.792+24C>T r.(=) p.(=)
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