Individual #00017479

Reference -
Gender F
Geographic origin Megara
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     
0000009951 52y - - - - Despoina Kalfakakou
0000009952 35y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001139 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
1 Parent #2 ?/? g.161326488C>A - SDHC_000019  rs778212096 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5631C>A, NM_001035512.1:c.161C>A, NM_001035513.1:c.104C>A, NM_001278172.1:c.140-5631C>A, NM_003001.3:c.263C>A r.(=), r.(?) p.(=), p.(Ser54*), p.(Ser35*), p.(Ser88*)
1 Parent #2 ?/? g.161326531T>C - SDHC_000014 rs11547241 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5588T>C, NM_001035512.1:c.204T>C, NM_001035513.1:c.147T>C, NM_001278172.1:c.140-5588T>C, NM_003001.3:c.306T>C r.(=) p.(=)
1 Parent #2 ?/? g.161326532G>C - SDHC_000015 - - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5587G>C, NM_001035512.1:c.205G>C, NM_001035513.1:c.148G>C, NM_001278172.1:c.140-5587G>C, NM_003001.3:c.307G>C r.(=), r.(?) p.(=), p.(Val69Leu), p.(Val50Leu), p.(Val103Leu)
2 Parent #2 -/- g.47607081A>G - EPCAM_000002 rs115283528 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 -/- g.47690162G>T - MSH2_000002 rs187525243 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 -?/-? g.47698179A>G - MSH2_000003 rs61756467 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
3 Parent #2 -/- g.10108991G>A - FANCD2_000029 rs55980657 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2484G>A, NM_033084.3:c.2484G>A r.(=) p.(=)
3 Parent #2 ?/? g.10131954G>A - FANCD2_000040 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3684-22G>A, NM_033084.3:c.3684-22G>A r.(=) p.(=)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
16 Parent #2 ?/? g.14020502G>A - ERCC4_000034 rs1012646362 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.473G>A r.(?) p.(Arg158His)
Legend