Individual #00017069

Reference -
Gender F
Geographic origin Salichli, Asia Minor
Geographic origin Domokos
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     
0000009410 53y - - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000009411 56y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000798 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.29543699G>A - ALK_000018 rs56165377 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1464C>T r.(=) p.(=)
3 Parent #2 +/+ g.10119818_10119819del - FANCD2_000084 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2913_2914del, NM_033084.3:c.2913_2914del r.(?) p.(Ser973Profs*52)
5 Parent #2 ?/? g.176671188A>G - NSD1_000042 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4303-8A>G, NM_172349.2:c.3496-8A>G r.(=) p.(=)
7 Parent #2 ?/? g.55269520A>G - EGFR_000009 rs41446045 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
7 Parent #2 +/+ g.66459273T>A - SBDS_000016 rs120074160 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.184A>T r.(?) p.(Lys62*)
7 Parent #2 ?/? g.66459274A>G - SBDS_000015 rs200346194 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.183T>C r.(=) p.(=)
8 Parent #2 -/- g.90970940_90970942del - NBN_000027 rs747584990 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.1124+11_1124+13del r.(=) p.(=)
10 Parent #2 ?/? g.43623746C>A - RET_000005 - - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.*1544C>A, NM_020975.4:c.*29C>A r.(=) p.(=)
13 Parent #2 -/- g.32936853C>T - BRCA2_000062 rs183623188 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.7976+23C>T r.(=) p.(=)
15 Parent #2 -/- g.89838176T>G - FANCI_000010 rs145762491 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
16 Parent #2 ?/? g.2137985G>A - TSC2_000032 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
Legend