Individual #00021123

Reference -
Gender F
Geographic origin Arta & Chios
Geographic origin Agios Mattheos Corfu
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     
0000013661 56y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000176 DNA SEQ-NG-I 1 - 15 Despoina Kalfakakou



Variants

15 entries on 1 page. Showing entries 1 - 15.
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     
2 Parent #2 -?/-? g.47656935A>G - MSH2_000017 rs181852377 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1131A>G, NM_001258281.1:c.933A>G r.(=) p.(=)
2 Parent #2 ?/? g.58453860T>C - FANCL_000011 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.273+3A>G, NM_018062.3:c.273+3A>G r.spl? p.?
3 Parent #2 -/- g.37050416A>T - MLH1_000031 rs121909453 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.545+20A>T, NM_001167617.1:c.251+20A>T, NM_001167618.1:c.-179+20A>T, NM_001167619.1:c.-179+1862A>T, NM_001258271.1:c.545+20A>T, NM_001258273.1:c.-179+20A>T, NM_001258274.1:c.-179+20A>T r.(=) p.(=)
7 Parent #2 +/+ g.6018315_6018316del - PMS2_000022 rs587779335 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2186_2187del r.(?) p.(Leu729Glnfs*6)
7 Parent #2 ?/? g.6018320T>C - PMS2_000023 rs141893001 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2182A>G r.(?) p.(Thr728Ala)
9 Parent #2 ./. g.22033388T>C - chr9_000005 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
13 Parent #2 -/- g.32906593C>A - BRCA2_000041 rs28897706 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.978C>A r.(?) p.(Ser326Arg)
13 Parent #2 ?/? g.103506172G>A - ERCC5_000016 rs772275078 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.330G>A r.(=) p.(=)
13 Parent #2 ?/? g.103518949C>T - ERCC5_000029 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2320-33C>T r.(=) p.(=)
15 Parent #2 ?/? g.40475883C>T - BUB1B_000011 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.582-32C>T r.(=) p.(=)
16 Parent #2 ?/? g.2134208C>T - TSC2_000028 rs397515012 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4006-21C>T, NM_001077183.1:c.3805-21C>T, NM_001114382.1:c.3937-21C>T r.(=) p.(=)
16 Parent #2 -?/-? g.23649446T>C - PALB2_000021 rs138789658 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.53A>G r.(?) p.(Lys18Arg)
17 Parent #2 ?/? g.56770084T>C - RAD51C_000006 rs587781309 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.80T>C, NM_058216.2:c.80T>C r.(?) p.(Leu27Pro)
22 Parent #2 -?/-? g.30090795G>A - NF2_000008 rs141099051 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.*4G>A, NM_016418.5:c.*64G>A, NM_181828.2:c.*64G>A, NM_181829.2:c.*64G>A, NM_181830.2:c.*64G>A, NM_181832.2:c.*79G>A, NM_181833.2:c.*4G>A r.(=) p.(=)
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