Individual #00021245

Reference -
Gender F
Geographic origin Halkidiki
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     
0000013188 20y - - No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000474 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.48018275A>G - MSH6_000013 rs1800933 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.457+13A>G, NM_001281492.1:c.238-7475A>G, NM_001281493.1:c.-280+13A>G, NM_001281494.1:c.-446+13A>G r.(=) p.(=)
3 Parent #2 ?/? g.37067083A>C - MLH1_000002 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-45A>C, NM_001167617.1:c.745-45A>C, NM_001167618.1:c.316-45A>C, NM_001167619.1:c.316-45A>C, NM_001258271.1:c.1039-45A>C, NM_001258273.1:c.316-45A>C, NM_001258274.1:c.316-45A>C r.(=) p.(=)
5 Parent #2 -/- g.176707724C>G - NSD1_000002 rs61749654 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.5781C>G, NM_172349.2:c.4974C>G r.(=) p.(=)
8 Parent #2 ?/? g.31004690T>C - WRN_000052 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3459+46T>C r.(=) p.(=)
8 Parent #2 ?/? g.145738548G>C - RECQL4_000081 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2465-27C>G - p.?
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 -?/-? g.108114792C>T - ATM_000090 rs144709948 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.609C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2108724C>T - TSC2_000009 rs373618207 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.849-24C>T, NM_001077183.1:c.849-24C>T, NM_001114382.1:c.849-24C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2120559G>A - TSC2_000013 rs45517203 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1819G>A, NM_001077183.1:c.1819G>A, NM_001114382.1:c.1819G>A r.(?) p.(Ala607Thr)
16 Parent #2 ?/? g.2138319G>A - TSC2_000090 rs373365980 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5252G>A, NM_001077183.1:c.5051G>A, NM_001114382.1:c.5183G>A r.(?) p.(Arg1751His), p.(Arg1684His), p.(Arg1728His)
16 Parent #2 -/- g.23637715G>A - PALB2_000027 rs45568339 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2590C>T r.(?) p.(Pro864Ser)
19 Parent #2 ?/? g.1221960A>T - STK11_000012 rs587780011 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.875A>T r.(?) p.(Tyr292Phe)
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