Individual #00016601

Reference -
Gender F
Geographic origin Lamia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 4
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     
0000008758 71y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000298 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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     
1 Parent #2 ?/? g.45798541G>A - MUTYH_000010 - - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.463-35C>T, NM_001048172.1:c.424-35C>T, NM_001048173.1:c.421-35C>T, NM_001048174.1:c.421-35C>T, NM_001128425.1:c.505-35C>T, NM_012222.2:c.496-35C>T r.(=) p.(=)
2 Parent #2 ./. g.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 -/- g.37067410G>A - MLH1_000011 rs63750365 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1321G>A, NM_001167617.1:c.1027G>A, NM_001167618.1:c.598G>A, NM_001167619.1:c.598G>A, NM_001258271.1:c.1321G>A, NM_001258273.1:c.598G>A, NM_001258274.1:c.598G>A r.(?) p.(Ala441Thr), p.(Ala343Thr), p.(Ala200Thr)
5 Parent #2 ?/? g.112102972G>C - APC_000029 rs758995578 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.307G>C, NM_001127510.2:c.307G>C, NM_001127511.2:c.337G>C r.(?) p.(Val103Leu), p.(Val113Leu)
10 Parent #2 -/- g.72357857T>C - PRF1_000001 rs149776121 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1620A>G, NM_005041.4:c.1620A>G r.(=) p.(=)
10 Parent #2 ./. g.120278926G>T - chr10_000012 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.95532375A>G - CEP57_000005 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
13 Parent #2 ?/? g.48947503C>T - RB1_000016 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1128-38C>T r.(=) p.(=)
16 Parent #2 ?/? g.2129474G>A - TSC2_000067 rs140027616 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3284+45G>A, NM_001077183.1:c.3152+45G>A, NM_001114382.1:c.3284+45G>A r.(=) p.(=)
16 Parent #2 -/- g.2132493G>A - TSC2_000069 rs201135184 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3871G>A, NM_001077183.1:c.3682+694G>A, NM_001114382.1:c.3814+694G>A r.(?), r.(=) p.(Val1291Ile), p.(=)
16 Parent #2 -?/-? g.2136384C>T - TSC2_000030 rs370426490 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4849+4C>T, NM_001077183.1:c.4648+4C>T, NM_001114382.1:c.4780+4C>T r.spl? p.?
16 Parent #2 -/- g.14026008T>C - ERCC4_000003 rs201181735 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
17 Parent #2 +?/+? g.41197790C>T [Papamentzelopoulou et al. 2019] BRCA1_000015 rs80357268 - Germline - - - Yes Despoina Kalfakakou BRCA1 - NM_007294.3:c.5497G>A, NM_007297.3:c.5356G>A, NM_007298.3:c.2185G>A, NM_007299.3:c.*11G>A, NM_007300.3:c.5560G>A r.(?), r.(=) p.(Val1833Met), p.(Val1786Met), p.(Val729Met), p.(=), p.(Val1854Met)
19 Parent #2 ?/? g.45867721G>A - ERCC2_000027 rs137910235 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.679C>T, NM_001130867.1:c.607C>T r.(?) p.(Arg227Cys), p.(Arg203Cys)
Legend