Individual #00016686

Reference -
Gender F
Geographic origin Argos
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00016685
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008887 32y - - Ductal Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou
0000008888 32y - - Ductal Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000350 DNA SEQ-NG-I 1 - 20 Despoina Kalfakakou



Variants

20 entries on 1 page. Showing entries 1 - 20.
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     
3 Parent #2 ./. g.14219932G>C - XPC_000010 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103+34C>G, NM_004628.4:c.103+34C>G r.(=) p.(=)
4 Parent #2 ./. g.55597987C>T - KIT_000009 rs72549295 - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2234-50C>T, NM_001093772.1:c.2222-50C>T r.(=) p.(=)
7 Parent #2 ./. g.66453348T>C - SBDS_000005 rs11557421 - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
7 Parent #2 ./. g.66453508A>T - SBDS_000010 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-22T>A r.(=) p.(=)
8 Parent #2 ./. g.145742479C>T - RECQL4_000032 rs4251688 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.309G>A - p.?
11 Parent #2 ./. g.22646909C>T - FANCF_000008 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.448G>A r.(?) p.(Gly150Ser)
11 Parent #2 ./. g.108128246T>A - ATM_000027 rs34231402 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2289T>A r.(?) p.(Phe763Leu)
15 Parent #2 ./. g.89828377T>C - FANCI_000033 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1749T>C, NM_018193.2:c.1749T>C r.(=) p.(=)
16 Parent #2 ./. g.2104450C>T - TSC2_000061 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.481+9C>T, NM_001077183.1:c.481+9C>T, NM_001114382.1:c.481+9C>T r.(=) p.(=)
16 Parent #2 ./. g.68853134A>G - CDH1_000023 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1566-49A>G r.(=) p.(=)
17 Parent #2 ./. g.29541589A>G - NF1_000056 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1513A>G, NM_001042492.2:c.1513A>G, NM_001128147.2:c.1513A>G r.(?) p.(Lys505Glu)
17 Parent #2 ./. g.29548926T>G - NF1_000057 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1700T>G, NM_001042492.2:c.1700T>G, NM_001128147.2:c.1700T>G r.(?) p.(Val567Gly)
17 Parent #2 ./. g.29550425G>A - NF1_000041 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1722-37G>A, NM_001042492.2:c.1722-37G>A, NM_001128147.2:c.*1417G>A r.(=) p.(=)
17 Parent #2 ./. g.29550426A>T - NF1_000042 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1722-36A>T, NM_001042492.2:c.1722-36A>T, NM_001128147.2:c.*1418A>T r.(=) p.(=)
17 Parent #2 ./. g.29554239G>C - NF1_000096 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2255G>C, NM_001042492.2:c.2255G>C, NM_001128147.2:c.*5231G>C r.(?), r.(=) p.(Arg752Thr), p.(=)
17 Parent #2 ./. g.29560240T>A - NF1_000050 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3708+9T>A, NM_001042492.2:c.3708+9T>A r.(=) p.(=)
17 Parent #2 ./. g.29562892A>G - NF1_000086 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-44A>G, NM_001042492.2:c.3871-44A>G r.(=) p.(=)
17 Parent #2 ./. g.29586094A>G - NF1_000112 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4314A>G, NM_001042492.2:c.4377A>G r.(=) p.(=)
17 Parent #2 ./. g.29592272T>A - NF1_000070 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4687T>A, NM_001042492.2:c.4750T>A r.(?) p.(Phe1563Ile), p.(Phe1584Ile)
22 Parent #2 ./. g.29091142C>T - CHEK2_000016 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.1477G>A, NM_001257387.1:c.685G>A, NM_007194.3:c.1348G>A, NM_145862.2:c.1261G>A r.(?) p.(Glu493Lys), p.(Glu229Lys), p.(Glu450Lys), p.(Glu421Lys)
Legend