Individual #00021900

Reference -
Gender F
Geographic origin Thessalia & Larisa
Geographic origin Aitoliko, AetoliaAcarnania
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     

Grade     

Histology     

Stage     

OvCa FH     

Subtype     

Subcategory     

Owner     
0000013192 21y - - I Mixed - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001685 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.193107353G>T - CDC73_000025 - - - - - - - Despoina Kalfakakou CDC73 - NM_024529.4:c.512+50G>T r.(=) p.(=)
2 Parent #2 ./. g.47710131G>T - MSH2_000022 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.*43G>T, NM_001258281.1:c.*43G>T r.(=) p.(=)
3 Parent #1 ./. g.37067094_37067102del - MLH1_000003 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 ./. g.37067095_37067102del - MLH1_000024 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
5 Parent #2 ./. g.112178866C>A - APC_000101 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.7575C>A, NM_001127510.2:c.7575C>A, NM_001127511.2:c.7521C>A r.(=) p.(=)
8 Parent #2 ./. g.145738492A>G - RECQL4_000165 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2494T>C - p.?
11 Parent #1 ./. g.108151707_108151708insA - ATM_000092 rs3218681 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insA r.(=) p.(=)
11 Parent #2 ./. g.108151707_108151708insTA - ATM_000093 rs3218681 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3403-15_3403-14insTA r.(=) p.(=)
13 Parent #2 ./. g.48916887A>G - RB1_000008 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
13 Parent #2 ./. g.49047451A>G - RB1_000006 rs4151610 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
17 Parent #2 ./. g.74471258C>T - RHBDF2_000001 rs62085019 - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1116-35G>A, NM_024599.5:c.1203-35G>A r.(=) p.(=)
19 Parent #2 ./. g.33532308C>T - chr19_000013 - - - - - - - Despoina Kalfakakou - - - -
Legend