Individual #00021827

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin Thessaloniki
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     
0000013656 55y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002126 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
2 Parent #2 ?/? g.58389997T>C - FANCL_000041 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.918+4A>G, NM_018062.3:c.903+4A>G r.spl? p.?
7 Parent #2 ?/? g.116397532A>G - MET_000072 rs773826297 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1904A>G, NM_001127500.1:c.1904A>G r.(?) p.(Asn635Ser)
8 Parent #2 ?/? g.145736791C>T - RECQL4_000017 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.*23G>A - p.?
9 Parent #2 -?/-? g.135771682C>T - TSC1_000080 rs140352085 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.3435G>A, NM_001162426.1:c.3432G>A, NM_001162427.1:c.3282G>A r.(=) p.(=)
9 Parent #2 -/- g.135776958T>G - TSC1_000076 rs200908079 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2502+18A>C, NM_001162426.1:c.2499+18A>C, NM_001162427.1:c.2349+18A>C r.(=) p.(=)
11 Parent #2 ?/? g.44219599A>G - EXT2_000052 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1594+31A>G, NM_001178083.1:c.1525+31A>G, NM_207122.1:c.1495+31A>G r.(=) p.(=)
12 Parent #2 ?/? g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -/- g.89828441C>T - FANCI_000034 rs117125761 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1813C>T, NM_018193.2:c.1813C>T r.(?) p.(Leu605Phe)
16 Parent #2 ?/? g.14029516G>C - ERCC4_000021 rs1800068 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1727G>C r.(?) p.(Arg576Thr)
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