Individual #00020097

Reference -
Gender F
Geographic origin Preveza
Geographic origin Constantinople
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC, ENDO, EnPol, OVCA
Owner name Despoina Kalfakakou


Phenotypes

Endometrial cancer, familial (ENC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012371 32y - - - Despoina Kalfakakou

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000012372 32y - - - - Despoina Kalfakakou

Endometriosis (ENDO)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012370 32y - - - Despoina Kalfakakou

Endometrial polyps (EnPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012373 32y - - Hyperplastic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001383 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
3 Parent #2 ?/? g.10105446G>T - FANCD2_000113 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1828-30G>T, NM_033084.3:c.1828-30G>T r.(=) p.(=)
8 Parent #2 -?/-? g.118819560G>A - EXT1_000009 rs143881630 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1779C>T r.(=) p.(=)
11 Parent #2 -?/-? g.67250676G>A - AIP_000009 rs145047094 - Germline - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
13 Parent #2 ?/? g.103514630T>A - ERCC5_000007 rs764744058 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1131T>A r.(=) p.(=)
16 Parent #2 ?/? g.2127718T>G - TSC2_000237 rs1596375441 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2957T>G, NM_001077183.1:c.2837+1132T>G, NM_001114382.1:c.2957T>G r.(?), r.(=) p.(Val986Gly), p.(=)
16 Parent #2 -/- g.2134982_2134984del - TSC2_000085 rs137854239 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4524_4526del, NM_001077183.1:c.4323_4325del, NM_001114382.1:c.4455_4457del r.(?) p.(Phe1510del), p.(Phe1443del), p.(Phe1487del)
16 Parent #2 ?/? g.3641280C>T - SLX4_000043 rs140600202 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2359G>A r.(?) p.(Glu787Lys)
Legend