Individual #00017056

Reference -
Gender F
Geographic origin Greece
Geographic origin Scandinavia
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     
0000009392 64y - - Ductal Invasive II N/A N/A N/A N/A - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000791 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
5 Parent #2 ./. g.1315641T>C - chr5_000025 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112151320A>G - APC_000022 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.933+30A>G, NM_001127510.2:c.933+30A>G, NM_001127511.2:c.879+30A>G r.(=) p.(=)
5 Parent #2 ./. g.112175240G>C - APC_000031 rs1801166 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3949G>C, NM_001127510.2:c.3949G>C, NM_001127511.2:c.3895G>C r.(?) p.(Glu1317Gln), p.(Glu1299Gln)
5 Parent #2 ./. g.112176556G>A - APC_000006 rs34506289 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5265G>A, NM_001127510.2:c.5265G>A, NM_001127511.2:c.5211G>A r.(=) p.(=)
5 Parent #2 ./. g.112177828A>G - APC_000058 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.6537A>G, NM_001127510.2:c.6537A>G, NM_001127511.2:c.6483A>G r.(=) p.(=)
7 Parent #2 ./. g.148508818G>A - EZH2_000026 rs78589034 - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1837-6C>T, NM_001203248.1:c.1810-6C>T, NM_001203249.1:c.1684-6C>T, NM_004456.4:c.1852-6C>T, NM_152998.2:c.1720-6C>T r.(=) p.(=)
9 Parent #2 ./. g.21974640C>G - CDKN2A_000016 rs45456595 - - - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.150+37G>C, NM_001195132.1:c.150+37G>C, NM_058195.3:c.194-3433G>C, NM_058197.4:c.187G>C r.(=), r.(?) p.(=), p.(Gly63Arg)
11 Parent #2 ./. g.22647366G>C - FANCF_000003 rs3740615 - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.-10C>G r.(=) p.(=)
11 Parent #2 ./. g.32410735C>T - WT1_000016 - - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1373-10G>A, NM_001198551.1:c.788-10G>A, NM_001198552.1:c.746-10G>A, NM_024424.3:c.1424-10G>A, NM_024426.4:c.1433-10G>A r.(=) p.(=)
16 Parent #2 ./. g.2133828C>T - TSC2_000140 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4005+11C>T, NM_001077183.1:c.3804+11C>T, NM_001114382.1:c.3936+11C>T r.(=) p.(=)
16 Parent #2 ./. g.89824960C>A - FANCA_000094 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.2981+25G>T r.(=) p.(=)
16 Parent #2 ./. g.89877386G>C - FANCA_000052 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.377C>G, NM_001018112.1:c.377C>G r.(?) p.(Thr126Arg)
17 Parent #2 ./. g.59853755C>T - BRIP1_000022 rs4988352 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2097+7G>A r.(=) p.(=)
Legend