Individual #00017598

Reference -
Gender F
Geographic origin Rethymno
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     
0000010122 30y - - Ductal Invasive II N/A Positive Positive Positive - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001262 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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.29446190C>T - ALK_000075 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3359+18G>A r.(=) p.(=)
2 Parent #2 ./. g.48018275A>G - MSH6_000013 rs1800933 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
5 Parent #2 ./. g.176718972G>A - NSD1_000067 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6276G>A, NM_172349.2:c.5469G>A r.(=) p.(=)
10 Parent #2 ./. g.88683109C>A - BMPR1A_000028 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1343-24C>A r.(=) p.(=)
11 Parent #2 ./. g.44255779A>C - EXT2_000025 - - - - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.2020A>C, NM_001178083.1:c.1951A>C, NM_207122.1:c.1921A>C r.(?) p.(Lys674Gln), p.(Lys651Gln), p.(Lys641Gln)
11 Parent #2 ./. g.47259417T>C - DDB2_000005 rs61741581 - - - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.1053T>C r.(=) p.(=)
12 Parent #2 ./. g.121426645G>A - HNF1A_000010 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.336G>A r.(=) p.(=)
12 Parent #2 ./. g.121437108C>T - HNF1A_000015 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
13 Parent #2 ./. g.32906415G>A - BRCA2_000182 rs80359036 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.800G>A r.(?) p.(Gly267Glu)
14 Parent #2 ./. g.45605672G>A - FANCM_000082 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.438G>A r.(=) p.(=)
16 Parent #2 ./. g.14041577C>T - ERCC4_000017 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2124C>T r.(=) p.(=)
17 Parent #2 ./. g.17119725G>A - FLCN_000001 rs41464156 - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4968C>T, NM_144997.5:c.1269C>T r.(=) p.(=)
17 Parent #2 ./. g.41245026C>T - BRCA1_000080 rs80357337 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2522G>A, NM_007297.3:c.2381G>A, NM_007298.3:c.787+1735G>A, NM_007299.3:c.787+1735G>A, NM_007300.3:c.2522G>A r.(?), r.(=) p.(Arg841Gln), p.(Arg794Gln), p.(=)
17 Parent #2 ./. g.41246483C>T - BRCA1_000042 rs41286292 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1065G>A, NM_007297.3:c.924G>A, NM_007298.3:c.787+278G>A, NM_007299.3:c.787+278G>A, NM_007300.3:c.1065G>A r.(=) p.(=)
17 Parent #2 ./. g.58740632T>G - chr17_000021 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ./. g.59924512C>T - BRIP1_000004 rs4988346 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.577G>A r.(?) p.(Val193Ile)
20 Parent #2 ./. g.6404317G>A - chr20_000002 - - - - - - - Despoina Kalfakakou - - - -
Legend