Individual #00021222

Reference -
Gender F
Geographic origin Thessaloniki
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     
0000013713 58y - - III Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000369 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.45797157G>T - MUTYH_000006 - - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1216C>A, NM_001048172.1:c.1177C>A, NM_001048173.1:c.1174C>A, NM_001048174.1:c.1174C>A, NM_001128425.1:c.1258C>A, NM_012222.2:c.1249C>A r.(?) p.(Leu406Met), p.(Leu393Met), p.(Leu392Met), p.(Leu420Met), p.(Leu417Met)
1 Parent #2 ./. g.45797255G>A - MUTYH_000008 rs3219490 - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
2 Parent #2 ./. g.47702457_47702458insG - MSH2_000019 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+48_2005+49insG, NM_001258281.1:c.1807+48_1807+49insG r.(=) p.(=)
3 Parent #2 ./. g.37089132G>A - MLH1_000037 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1854G>A, NM_001167617.1:c.1560G>A, NM_001167618.1:c.1131G>A, NM_001167619.1:c.1131G>A, NM_001258271.1:c.1854G>A, NM_001258273.1:c.1131G>A, NM_001258274.1:c.1131G>A r.(=) p.(=)
7 Parent #2 ./. g.55259373G>A - EGFR_000021 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2470-39G>A r.(=) p.(=)
7 Parent #2 ./. g.116436198C>G - MET_000007 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.*20C>G, NM_001127500.1:c.*20C>G r.(=) p.(=)
8 Parent #2 ./. g.145737212T>C - RECQL4_000076 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3395-40A>G - p.?
8 Parent #2 ./. g.145739127G>A - RECQL4_000010 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2059-31C>T - p.?
8 Parent #2 ./. g.145740702C>T - RECQL4_000049 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1390+8G>A - p.?
16 Parent #2 ./. g.2133701G>A - TSC2_000071 rs45517319 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.3889G>A, NM_001077183.1:c.3688G>A, NM_001114382.1:c.3820G>A r.(?) p.(Ala1297Thr), p.(Ala1230Thr), p.(Ala1274Thr)
16 Parent #2 ./. g.3656682C>T - SLX4_000022 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.553G>A r.(?) p.(Asp185Asn)
17 Parent #2 ./. g.29508813C>A - NF1_000106 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.730+10C>A, NM_001042492.2:c.730+10C>A, NM_001128147.2:c.730+10C>A r.(=) p.(=)
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