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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000008758 71y - - III Serous - 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 - - - - - - - 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 - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1128-38C>T r.(=) p.(=)
16 Parent #2 ./. g.2129474G>A - TSC2_000067 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
17 Parent #2 ./. g.41197790C>T - BRCA1_000015 rs80357268 - - - - - - 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 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.679C>T, NM_001130867.1:c.607C>T r.(?) p.(Arg227Cys), p.(Arg203Cys)
Legend