Individual #00019967

Reference -
Gender F
Geographic origin Dafni, Kalavryta
Geographic origin Athens
Population Greek
Consanguinity no
Remarks -
Panel ID 00019965
Panel size 2
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     
0000012183 43y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000611 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.(=)
8 Parent #2 ?/? g.145739143G>A - RECQL4_000096 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-47C>T - p.?
9 Parent #2 ?/? g.21974720G>A - CDKN2A_000001 rs200382984 - Germline - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.107C>T, NM_001195132.1:c.107C>T, NM_058195.3:c.194-3513C>T, NM_058197.4:c.107C>T r.(?), r.(=) p.(Ala36Val), p.(=)
9 Parent #2 -?/-? g.98231279G>A - PTCH1_000045 rs151216961 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2004C>T, NM_001083602.1:c.1806C>T, NM_001083603.1:c.2001C>T, NM_001083604.1:c.1551C>T, NM_001083605.1:c.1551C>T, NM_001083606.1:c.1551C>T, NM_001083607.1:c.1551C>T r.(=) p.(=)
9 Parent #2 -?/-? g.135797337C>T - TSC1_000003 rs118203395 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.532G>A, NM_001162426.1:c.532G>A, NM_001162427.1:c.379G>A r.(?) p.(Val178Ile), p.(Val127Ile)
10 Parent #2 -?/-? g.104359297G>T - SUFU_000001 rs34135067 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.1018G>T, NM_016169.3:c.1018G>T r.(?) p.(Ala340Ser)
15 Parent #2 ./. g.70019016C>T - chr15_000010 - - - - - - - Despoina Kalfakakou - - - -
17 Parent #2 ?/? g.29562897G>A - NF1_000051 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3871-39G>A, NM_001042492.2:c.3871-39G>A r.(=) p.(=)
17 Parent #2 ?/? g.33428327G>A Konstanta et al (2018) RAD51D_000001 rs587781813 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.856C>T, NM_002878.3:c.796C>T, NM_133629.2:c.460C>T r.(?) p.(Arg286Cys), p.(Arg266Cys), p.(Arg154Cys)
17 Parent #2 -/- g.41223119T>C - BRCA1_000007 rs28897693 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4812A>G, NM_007297.3:c.4671A>G, NM_007298.3:c.1500A>G, NM_007299.3:c.1500A>G, NM_007300.3:c.4875A>G r.(=) p.(=)
Legend