Individual #00021618

Reference -
Gender F
Geographic origin Zoodochos, Ioannina
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     

OvCa FH     

Subtype     

Owner     
0000013303 39y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001315 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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     
3 Parent #2 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - 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.52436459T>G - BAP1_000012 rs144083199 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.2057-22A>C r.(=) p.(=)
7 Parent #2 ?/? g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2149G>A r.(?) p.(Val717Met)
7 Parent #2 ?/? g.6042307C>T - PMS2_000034 - - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
8 Parent #2 ?/? g.31007996C>G - WRN_000083 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3687+25C>G r.(=) p.(=)
8 Parent #2 -/- g.145741960C>T - RECQL4_000084 rs34159914 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.543G>A - p.?
11 Parent #2 ?/? g.108121411_108121412del - ATM_000054 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1236-17_1236-16del r.spl? p.?
11 Parent #1 ?/? g.108121412dup - ATM_000055 - - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1236-16dup r.spl? p.?
16 Parent #2 -?/-? g.2121637C>T - TSC2_000051 rs372149311 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1946+20C>T, NM_001077183.1:c.1946+20C>T, NM_001114382.1:c.1946+20C>T r.(=) p.(=)
16 Parent #2 ?/? g.89874726A>C - FANCA_000149 rs1245987879 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.572T>G, NM_001018112.1:c.572T>G r.(?) p.(Val191Gly)
17 Parent #2 ?/? g.29556201C>T - NF1_000074 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>T, NM_001042492.2:c.2568C>T r.(=) p.(=)
21 Parent #2 ?/? g.36164470A>G - RUNX1_000019 - - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.1324T>C, NM_001754.4:c.1405T>C r.(?) p.(Ser442Pro), p.(Ser469Pro)
21 Parent #2 -?/-? g.36421116T>C - RUNX1_000009 rs117776183 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001754.4:c.58+23A>G r.(=) p.(=)
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