Individual #00016443

Reference -
Gender F
Geographic origin Larisa
Geographic origin East Thrace
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa, OVCA
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     
0000008525 53y - - N/A N/A N/A N/A Negative Negative Negative - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000008526 63y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000167 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.61066635T>A - chr2_000009 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.217905843C>T - chr2_000006 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112128202A>G - APC_000009 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.705A>G, NM_001127510.2:c.705A>G, NM_001127511.2:c.676-8774A>G r.(=) p.(=)
5 Parent #2 ./. g.176637046A>C - NSD1_000024 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1646A>C, NM_172349.2:c.839A>C r.(?) p.(Asn549Thr), p.(Asn280Thr)
7 Parent #2 ./. g.6043613G>A - PMS2_000016 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.240C>T r.(=) p.(=)
8 Parent #2 ./. g.145736968_145737020del - RECQL4_000074 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3503+44_3504-30del - p.?
11 Parent #2 ./. g.533451A>C - HRAS_000002 - - - - - - - Despoina Kalfakakou HRAS - NM_001130442.1:c.450+2T>G, NM_005343.2:c.450+2T>G, NM_176795.3:c.450+2T>G r.spl? p.?
11 Parent #2 ./. g.22646984C>T - FANCF_000001 rs61752920 - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
13 Parent #2 ./. g.32914137C>A - BRCA2_000048 rs80358785 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5645C>A r.(?) p.(Ser1882*)
16 Parent #2 ./. g.2103389C>T - TSC2_000040 rs45482691 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.272C>T, NM_001077183.1:c.272C>T, NM_001114382.1:c.272C>T r.(?) p.(Pro91Leu)
16 Parent #2 ./. g.3633304T>C - SLX4_000029 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4947A>G r.(=) p.(=)
16 Parent #2 ./. g.68772239C>A - CDH1_000027 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.88C>A r.(?) p.(Pro30Thr)
17 Parent #2 ./. g.17125765C>A - FLCN_000007 - - - - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
17 Parent #2 ./. g.59926633_59926634insA - BRIP1_000017 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.380-17_380-16insT r.(=) p.(=)
Legend