Individual #00017007

Reference -
Gender F
Geographic origin Kalymnos
Geographic origin Naxos
Population Greek
Consanguinity no
Remarks -
Panel size 5
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     
0000009327 37y - - Ductal Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000763 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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.17354373_17354374insGAAGAA - SDHB_000010 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.424-14_424-13insTTCTTC r.(=) p.(=)
2 Parent #2 ./. g.29473926C>A - ALK_000052 rs13405107 - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2204+45G>T r.(=) p.(=)
2 Parent #2 ./. g.58468487T>C - FANCL_000009 rs41281511 - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.-39A>G, NM_018062.3:c.-39A>G r.(=) p.(=)
3 Parent #1 ./. g.37067094_37067102del - MLH1_000003 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 ./. g.37067095_37067102del - MLH1_000024 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.22647116C>A - FANCF_000002 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.241G>T r.(?) p.(Ala81Ser)
11 Parent #2 ./. g.32456784C>G - WT1_000005 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.108G>C, NM_001198551.1:c.-4699G>C, NM_001198552.1:c.-4699G>C, NM_024424.3:c.108G>C, NM_024426.4:c.108G>C r.(=) p.(=)
13 Parent #2 ./. g.32937488G>T - BRCA2_000063 rs28897747 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8149G>T r.(?) p.(Ala2717Ser)
15 Parent #2 ./. g.40468866C>A - BUB1B_000008 - - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.573C>A r.(=) p.(=)
16 Parent #2 ./. g.2124169G>A - TSC2_000020 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2356-32G>A, NM_001077183.1:c.2356-32G>A, NM_001114382.1:c.2356-32G>A r.(=) p.(=)
17 Parent #2 ./. g.29556201C>T - NF1_000074 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>T, NM_001042492.2:c.2568C>T r.(=) p.(=)
17 Parent #2 ./. g.29557869G>T - NF1_000109 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3123G>T, NM_001042492.2:c.3123G>T r.(?) p.(Met1041Ile)
17 Parent #2 ./. g.41258504A>C - BRCA1_000014 rs28897672 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.181T>G, NM_007297.3:c.40T>G, NM_007298.3:c.181T>G, NM_007299.3:c.181T>G, NM_007300.3:c.181T>G r.(?) p.(Cys61Gly), p.(Cys14Gly)
17 Parent #2 ./. g.74469185C>T - RHBDF2_000007 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1812G>A, NM_024599.5:c.1899G>A r.(=) p.(=)
Legend