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     

BRCA/FH     

Subtype     

Owner     
0000008525 53y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000008526 63y - - 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 rs147036141 - Germline - - - - 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 - - Germline - - - - 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 rs143162541 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.240C>T r.(=) p.(=)
8 Parent #2 ?/? g.145736968_145737020del - RECQL4_000074 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3503+44_3504-30del - p.?
11 Parent #2 +?/+? g.533451A>C - HRAS_000002 - - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
13 Parent #2 +/+ g.32914137C>A - BRCA2_000048 rs80358785 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.5645C>A r.(?) p.(Ser1882*)
16 Parent #2 -/- g.2103389C>T - TSC2_000040 rs45482691 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4947A>G r.(=) p.(=)
16 Parent #2 -/- g.68772239C>A - CDH1_000027 rs139866691 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.88C>A r.(?) p.(Pro30Thr)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.380-17_380-16insT r.(=) p.(=)
Legend