Individual #00021830

Reference -
Gender F
Geographic origin Gimno, Euboea
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     
0000013707 57y - - III Serous - No - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002130 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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     
1 Parent #2 ./. g.161293492del - SDHC_000011 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+32del, NM_001035512.1:c.77+32del, NM_001035513.1:c.20+9277del, NM_001278172.1:c.77+32del, NM_003001.3:c.77+32del r.(=) p.(=)
2 Parent #2 ./. g.47601029G>C - EPCAM_000005 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.267G>C r.(?) p.(Gln89His)
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
2 Parent #2 ./. g.48032033C>T - MSH6_000017 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3439-16C>T, NM_001281492.1:c.3049-16C>T, NM_001281493.1:c.2533-16C>T, NM_001281494.1:c.2533-16C>T r.(=) p.(=)
2 Parent #2 ./. g.128016978G>A - ERCC3_000015 rs4150521 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2111C>T r.(?) p.(Ser704Leu)
7 Parent #2 ./. g.116403090G>T - MET_000066 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.2365-14G>T, NM_001127500.1:c.2419-14G>T r.(=) p.(=)
9 Parent #2 ./. g.97912337C>T - FANCC_000012 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.554G>A, NM_001243743.1:c.554G>A, NM_001243744.1:c.554G>A r.(?) p.(Arg185Gln)
10 Parent #2 ./. g.64580528T>G - chr10_000004 - - - - - - - Despoina Kalfakakou - - - -
13 Parent #2 ./. g.32913077G>A - BRCA2_000047 rs28897728 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4585G>A r.(?) p.(Gly1529Arg)
15 Parent #2 ./. g.89833552C>A - FANCI_000045 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1890+40C>A, NM_018193.2:c.1890+40C>A r.(=) p.(=)
16 Parent #2 ./. g.3658881G>A - SLX4_000080 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.85C>T r.(?) p.(Arg29Cys)
16 Parent #2 ./. g.14026008T>C - ERCC4_000003 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
17 Parent #2 ./. g.29556201C>G - NF1_000006 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 ./. g.29663623_29663624insA - NF1_000119 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.6085-30_6085-29insA, NM_001042492.2:c.6148-30_6148-29insA r.(=) p.(=)
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