Individual #00016594

Reference -
Gender M
Geographic origin Thasos
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     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000008746 78y - - Ductal Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou
0000008747 78y - - Ductal Invasive III N/A Positive Positive Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000288 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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.48018314_48018315insGA - MSH6_000026 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+52_457+53insGA, NM_001281492.1:c.238-7436_238-7435insGA, NM_001281493.1:c.-280+52_-280+53insGA, NM_001281494.1:c.-446+52_-446+53insGA r.(=) p.(=)
2 Parent #2 ./. g.48027520G>C - MSH6_000007 rs61748083 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2398G>C, NM_001281492.1:c.2008G>C, NM_001281493.1:c.1492G>C, NM_001281494.1:c.1492G>C r.(?) p.(Val800Leu), p.(Val670Leu), p.(Val498Leu)
3 Parent #2 ./. g.37067102T>A - MLH1_000007 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-26T>A, NM_001167617.1:c.745-26T>A, NM_001167618.1:c.316-26T>A, NM_001167619.1:c.316-26T>A, NM_001258271.1:c.1039-26T>A, NM_001258273.1:c.316-26T>A, NM_001258274.1:c.316-26T>A r.(=) p.(=)
5 Parent #2 ./. g.112174677T>C - APC_000027 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3386T>C, NM_001127510.2:c.3386T>C, NM_001127511.2:c.3332T>C r.(?) p.(Leu1129Ser), p.(Leu1111Ser)
7 Parent #2 ./. g.116340384A>C - MET_000008 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1200+46A>C, NM_001127500.1:c.1200+46A>C r.(=) p.(=)
8 Parent #2 ./. g.90990521T>C - NBN_000003 rs61754966 - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.511A>G r.(?) p.(Ile171Val)
9 Parent #2 ./. g.35075016G>A - FANCG_000011 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1544C>T r.(?) p.(Ala515Val)
10 Parent #2 ./. g.51549473C>T - chr10_000001 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.88678886A>G - BMPR1A_000010 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.869-43A>G r.(=) p.(=)
11 Parent #2 ./. g.64577253C>G - MEN1_000016 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.329G>C, NM_130799.2:c.329G>C, NM_130800.2:c.329G>C, NM_130801.2:c.329G>C, NM_130802.2:c.329G>C, NM_130803.2:c.329G>C, NM_130804.2:c.329G>C r.(?) p.(Gly110Ala)
11 Both (homozygous) ./. g.95550956C>G - CEP57_000008 - - - - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.483C>G, NM_001243777.1:c.510C>G, NM_014679.4:c.510C>G r.(=) p.(=)
13 Parent #2 ./. g.48923093A>G - RB1_000027 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.541A>G r.(?) p.(Ile181Val)
16 Parent #2 ./. g.89842176C>G - FANCA_000004 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
17 Parent #2 ./. g.41228641G>A - BRCA1_000034 rs80358111 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4358-10C>T, NM_007297.3:c.4217-10C>T, NM_007298.3:c.1049-13C>T, NM_007299.3:c.1049-13C>T, NM_007300.3:c.4424-13C>T r.(=) p.(=)
Legend