Individual #00020104

Reference -
Gender F
Geographic origin Rumania
Geographic origin Greece
Population Rumanian-Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ENC
Owner name Despoina Kalfakakou


Phenotypes

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

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012385 59y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001404 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.63131691G>A - chr2_000008 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.90993017T>C - NBN_000043 rs769414 - Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.425A>G r.(?) p.(Asn142Ser)
13 Parent #2 -?/-? g.49027140A>G - RB1_000019 rs3092895 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1707A>G r.(=) p.(=)
15 Parent #2 ./. g.32994778A>T - chr15_000024 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ?/? g.89834974T>C - FANCI_000099 - - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1992+29T>C, NM_018193.2:c.1992+29T>C r.(=) p.(=)
16 Parent #2 ?/? g.2112481G>A - TSC2_000240 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1258-17G>A, NM_001077183.1:c.1258-17G>A, NM_001114382.1:c.1258-17G>A r.(=) p.(=)
16 Parent #2 ?/? g.2136784G>A - TSC2_000243 rs201694466 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4901G>A, NM_001077183.1:c.4700G>A, NM_001114382.1:c.4832G>A r.(?) p.(Arg1634His), p.(Arg1567His), p.(Arg1611His)
16 Parent #2 ?/? g.3639790G>C - SLX4_000118 rs200928592 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3849C>G r.(=) p.(=)
Legend