Individual #00021120

Reference -
Gender F
Geographic origin -
Geographic origin -
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     
0000013935 69y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000172 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou



Variants

18 entries on 1 page. Showing entries 1 - 18.
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.29451889G>A - ALK_000020 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2676C>T r.(=) p.(=)
2 Parent #2 ./. g.47601029G>C - EPCAM_000005 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.267G>C r.(?) p.(Gln89His)
2 Parent #2 ./. g.48032033C>T - MSH6_000017 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3439-16C>T, NM_001281492.1:c.3049-16C>T, NM_001281493.1:c.2533-16C>T, NM_001281494.1:c.2533-16C>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.112175211T>A - APC_000005 rs1801155 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3920T>A, NM_001127510.2:c.3920T>A, NM_001127511.2:c.3866T>A r.(?) p.(Ile1307Lys), p.(Ile1289Lys)
5 Parent #2 ./. g.176671297C>T - NSD1_000018 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.4378+26C>T, NM_172349.2:c.3571+26C>T r.(=) p.(=)
7 Parent #2 ./. g.116397604T>G - MET_000010 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1965+11T>G, NM_001127500.1:c.1965+11T>G r.(=) p.(=)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
8 Parent #2 ./. g.145738435G>A - RECQL4_000036 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2551C>T - p.?
10 Parent #2 ./. g.88683107_88683108insC - BMPR1A_000009 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1343-26_1343-25insC r.(=) p.(=)
10 Parent #2 ./. g.104357064C>T - SUFU_000003 - - - - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
13 Parent #2 ./. g.32893474A>G - BRCA2_000038 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.316+12A>G r.(=) p.(=)
13 Parent #2 ./. g.35252846C>A - chr13_000002 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.40462846T>C - BUB1B_000007 rs28989189 - - - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.348T>C r.(=) p.(=)
16 Parent #2 ./. g.23646744G>T - PALB2_000016 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.1123C>A r.(?) p.(Leu375Ile)
16 Parent #2 ./. g.50810100G>T - CYLD_000006 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.924G>T, NM_001042412.1:c.924G>T, NM_015247.2:c.933G>T r.(=) p.(=)
16 Parent #2 ./. g.68847374C>T - CDH1_000016 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1296C>T r.(=) p.(=)
Legend