Individual #00021796

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     
0000013927 68y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002082 DNA SEQ-NG-I 1 - 19 Despoina Kalfakakou



Variants

19 entries on 1 page. Showing entries 1 - 19.
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     
3 Parent #2 ./. g.10106533G>A - FANCD2_000125 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2142G>A, NM_033084.3:c.2142G>A r.(=) p.(=)
3 Parent #2 ./. 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.37090407G>A - MLH1_000122 rs63750292 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.2002G>A, NM_001167617.1:c.1708G>A, NM_001167618.1:c.1279G>A, NM_001167619.1:c.1279G>A, NM_001258271.1:c.1896+1233G>A, NM_001258273.1:c.1279G>A, NM_001258274.1:c.1279G>A r.(?), r.(=) p.(Glu668Lys), p.(Glu570Lys), p.(Glu427Lys), p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
4 Parent #2 ./. g.55602836T>C - KIT_000043 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2597-51T>C, NM_001093772.1:c.2585-51T>C r.(=) p.(=)
5 Parent #2 ./. g.1286469A>G - chr5_000002 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ./. g.30982561_30982564del - WRN_000121 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2825+45_2825+48del r.(=) p.(=)
8 Parent #2 ./. g.90983350T>A - NBN_000044 - - - - - - - Despoina Kalfakakou NBN - NM_002485.4:c.702+51A>T - -
8 Parent #2 ./. g.145736832G>A - RECQL4_000073 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3610C>T - p.?
11 Parent #2 ./. g.64575045C>T - MEN1_000024 - - - - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.777G>A, NM_130799.2:c.762G>A, NM_130800.2:c.777G>A, NM_130801.2:c.777G>A, NM_130802.2:c.777G>A, NM_130803.2:c.777G>A, NM_130804.2:c.777G>A r.(=) p.(=)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108198394C>A - ATM_000220 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6998C>A r.(?) p.(Thr2333Lys)
13 Parent #2 ./. g.32912750G>T - BRCA2_000026 rs28897727 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4258G>T r.(?) p.(Asp1420Tyr)
13 Parent #2 ./. g.103518045T>C - ERCC5_000088 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1983T>C r.(=) p.(=)
16 Parent #2 ./. g.2103372C>T - TSC2_000039 rs45517098 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 ./. g.2138086C>A - TSC2_000033 rs45483700 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5106C>A, NM_001077183.1:c.4905C>A, NM_001114382.1:c.5037C>A r.(=) p.(=)
16 Parent #2 ./. g.50813626C>T - CYLD_000037 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.1180C>T, NM_001042412.1:c.1180C>T, NM_015247.2:c.1189C>T r.(?) p.(Arg394Cys), p.(Arg397Cys)
16 Parent #2 ./. g.89862278T>C - FANCA_000070 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1006+36A>G, NM_001018112.1:c.*3209A>G r.(=) p.(=)
17 Parent #2 ./. g.29483195G>C - NF1_000021 rs17885980 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.204+51G>C, NM_001042492.2:c.204+51G>C, NM_001128147.2:c.204+51G>C r.(=) p.(=)
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