Individual #00021688

Reference -
Gender F
Geographic origin Phocis
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013350 42y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001897 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
5 Parent #2 ?/? g.112111479G>A - APC_000107 - - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.531+45G>A, NM_001127510.2:c.531+45G>A, NM_001127511.2:c.561+45G>A r.(=) p.(=)
5 Parent #2 -?/-? g.176638686C>T - NSD1_000016 rs202208033 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.3286C>T, NM_172349.2:c.2479C>T r.(?) p.(His1096Tyr), p.(His827Tyr)
6 Parent #2 ./. g.22140045T>G - chr6_000072 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
11 Parent #2 ?/? g.108196837G>A - ATM_000191 rs1800061 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6860G>A r.(?) p.(Gly2287Glu)
16 Parent #2 -/- g.2138546G>A - TSC2_000004 rs45517419 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5359G>A, NM_001077183.1:c.5158G>A, NM_001114382.1:c.5290G>A r.(?) p.(Gly1787Ser), p.(Gly1720Ser), p.(Gly1764Ser)
16 Parent #2 ?/? g.89862351G>C - FANCA_000048 rs747408661 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.969C>G, NM_001018112.1:c.*3136C>G r.(=) p.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
17 Parent #2 ?/? g.29508818G>T - NF1_000024 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.730+15G>T, NM_001042492.2:c.730+15G>T, NM_001128147.2:c.730+15G>T r.(=) p.(=)
Legend