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     

BRCA/FH     

Subtype     

Owner     
0000008746 78y - - - - Despoina Kalfakakou
0000008747 78y - - - - 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 rs397839804 - Germline - - - - 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 - Germline - - - - 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 rs1360955428 - Germline - - - - 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 rs143638171 - Germline - - - - 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 - - Germline - - - - 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   Yamamoto et al (2014)   NBN_000003 rs61754966 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.511A>G r.(?) p.(Ile171Val)
9 Parent #2 ?/? g.35075016G>A - FANCG_000011 rs1234056214 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.869-43A>G r.(=) p.(=)
11 Parent #2 ?/? g.64577253C>G - MEN1_000016 rs1389398299 - Germline - - - - 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 rs201373134 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.541A>G r.(?) p.(Ile181Val)
16 Parent #2 ?/? g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
17 Parent #2 -?/-? g.41228641G>A - BRCA1_000034 rs80358111 - Germline - - - - 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