Individual #00021360

Reference -
Gender F
Geographic origin Tripoli
Geographic origin Laurium
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     
0000013314 40y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000921 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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.58468474A>T - FANCL_000008 rs367703311 - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.-26T>A, NM_018062.3:c.-26T>A r.(=) p.(=)
3 Parent #2 -?/-? g.37067096_37067102del - MLH1_000005 rs71831268 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-26del, NM_001167617.1:c.745-32_745-26del, NM_001167618.1:c.316-32_316-26del, NM_001167619.1:c.316-32_316-26del, NM_001258271.1:c.1039-32_1039-26del, NM_001258273.1:c.316-32_316-26del, NM_001258274.1:c.316-32_316-26del r.(=) p.(=)
8 Parent #2 +/+ g.90983442_90983446del Bogdanova et al (2008), Hsu et al (2007), Tung et al (2016) ,NCCN guidelines, version 1.2021-September 8, 2020 NBN_000002  rs587776650 Low risk allele Germline - - - - Despoina Kalfakakou NBN - NM_002485.4:c.657_661del r.(?) p.(Lys219Asnfs*16)
9 Parent #2 ?/? g.98209761G>T - PTCH1_000064 - - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3805-28C>A, NM_001083602.1:c.3607-28C>A, NM_001083603.1:c.3802-28C>A, NM_001083604.1:c.3352-28C>A, NM_001083605.1:c.3352-28C>A, NM_001083606.1:c.3352-28C>A, NM_001083607.1:c.3352-28C>A r.(=) p.(=)
10 Parent #2 ?/? g.88672151A>T - BMPR1A_000021 - - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.675+10A>T r.(=) p.(=)
11 Parent #2 ?/? g.44253871G>A - EXT2_000006 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.1762-32G>A, NM_001178083.1:c.1693-32G>A, NM_207122.1:c.1663-32G>A r.(=) p.(=)
13 Parent #2 -/- g.32968810T>C - BRCA2_000013 rs11571818 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9257-16T>C r.(=) p.(=)
13 Parent #2 -/- g.32972626A>T - BRCA2_000018 rs11571833 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9976A>T r.(?) p.(Lys3326*)
13 Parent #2 ?/? g.103514630T>A - ERCC5_000007 rs764744058 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.1131T>A r.(=) p.(=)
15 Parent #2 -/- g.89834846A>C - FANCI_000071 rs118138806 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1893A>C, NM_018193.2:c.1893A>C r.(?) p.(Leu631Phe)
17 Parent #2 -?/-? g.41246306G>A - BRCA1_000085 rs372400428 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1242C>T, NM_007297.3:c.1101C>T, NM_007298.3:c.787+455C>T, NM_007299.3:c.787+455C>T, NM_007300.3:c.1242C>T r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
X Parent #2 ?/? g.14875963_14875965del - FANCB_000016 - - Germline - - - - Despoina Kalfakakou FANCB - NM_001018113.1:c.1197+19_1197+21del, NM_152633.2:c.1197+19_1197+21del r.(=) p.(=)
Legend