Individual #00016850

Reference -
Gender F
Geographic origin Drama
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     
0000009116 39y - - Medullary Invasive III N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000580 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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.47604162G>A - EPCAM_000003 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.501G>A r.(=) p.(=)
2 Parent #2 ./. g.48030528_48030529insA - MSH6_000010 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3173-31_3173-30insA, NM_001281492.1:c.2783-31_2783-30insA, NM_001281493.1:c.2267-31_2267-30insA, NM_001281494.1:c.2267-31_2267-30insA r.(=) p.(=)
2 Parent #2 ./. g.190742024A>G - PMS1_000018 rs61748257 - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2661A>G, NM_001128143.1:c.2544A>G, NM_001128144.1:c.2175A>G r.(=) p.(=)
3 Parent #2 ./. g.10188202C>T - VHL_000007 - - - - - - - Despoina Kalfakakou VHL - NM_000551.3:c.345C>T, NM_198156.2:c.341-3269C>T r.(=) p.(=)
8 Parent #2 ./. g.90983460G>A - NBN_000017 rs34767364 - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.643C>T r.(?) p.(Arg215Trp)
11 Parent #2 ./. g.67250676G>A - AIP_000009 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
13 Parent #2 ./. g.32912060C>T - BRCA2_000092 rs80358604 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.3568C>T r.(?) p.(Arg1190Trp)
13 Parent #2 ./. g.32953971C>T - BRCA2_000095 rs28897755 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9038C>T r.(?) p.(Thr3013Ile)
16 Parent #2 ./. g.3640715G>A - SLX4_000018 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
16 Parent #2 ./. g.3645724C>T - SLX4_000019 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1925-30G>A r.(=) p.(=)
16 Parent #2 ./. g.3646275C>T - SLX4_000001 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1803G>A r.(=) p.(=)
16 Parent #2 ./. g.3646323G>A - SLX4_000002 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1755C>T r.(=) p.(=)
16 Parent #2 ./. g.89871703T>G - FANCA_000049 rs61757384 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.694A>C, NM_001018112.1:c.694A>C r.(=) p.(=)
17 Parent #2 ./. g.29663623_29663624insA - NF1_000119 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6085-30_6085-29insA, NM_001042492.2:c.6148-30_6148-29insA r.(=) p.(=)
17 Parent #2 ./. g.59876546G>A - BRIP1_000028 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1255C>T r.(?) p.(Arg419Trp)
Legend