Individual #00016841

Reference -
Gender F
Geographic origin Aegina
Geographic origin Chania
Population Greek
Consanguinity no
Remarks -
Panel size 3
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000009102 47y - - Ductal Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000568 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - 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 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ./. g.58456962C>G - FANCL_000002 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.203G>C, NM_018062.3:c.203G>C r.(?) p.(Arg68Pro)
2 Parent #2 ./. g.190742024A>G - PMS1_000018 rs61748257 - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2661A>G, NM_001128143.1:c.2544A>G, NM_001128144.1:c.2175A>G r.(=) p.(=)
3 Parent #2 ./. g.14212047G>A - XPC_000008 rs41545713 - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
4 Parent #2 ./. g.1734287T>A - chr4_000008 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.35425812C>A - FANCE_000021 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.969+51C>A r.(=) p.(=)
7 Parent #2 ./. g.148512083C>T - EZH2_000023 - - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1580G>A, NM_001203248.1:c.1553G>A, NM_001203249.1:c.1504+515G>A, NM_004456.4:c.1595G>A, NM_152998.2:c.1463G>A r.(?), r.(=) p.(Arg527Gln), p.(Arg518Gln), p.(=), p.(Arg532Gln), p.(Arg488Gln)
8 Parent #2 ./. g.145737594C>G - RECQL4_000092 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3170G>C - p.?
10 Parent #2 ./. g.43609994C>T - RET_000037 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.1946C>T, NM_020975.4:c.1946C>T r.(?) p.(Ser649Leu)
11 Parent #2 ./. g.108199893A>G - ATM_000097 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7235A>G r.(?) p.(Asn2412Ser)
13 Parent #2 ./. g.48939015C>A - RB1_000029 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.862-15C>A r.(=) p.(=)
18 Parent #2 ./. g.48573687C>A - SMAD4_000024 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.249+22C>A r.(=) p.(=)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend