Individual #00021228

Reference -
Gender F
Geographic origin ─░stanbul Thessaloniki
Geographic origin ─░stanbul Thessaloniki
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     
0000013325 41y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000399 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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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.233195419T>G - DIS3L2_000034 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12636T>G, NM_152383.4:c.1943T>G r.(=), r.(?) p.(=), p.(Phe648Cys)
2 Parent #2 ?/? g.233199473G>A - DIS3L2_000004 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
3 Parent #2 ?/? g.10078053G>A - FANCD2_000023 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.491+30G>A, NM_033084.3:c.491+30G>A r.(=) p.(=)
11 Parent #2 -/- g.64572560C>T - MEN1_000003 rs138770431 - Germline - - - - Despoina Kalfakakou MEN1 - NM_000244.3:c.1311G>A, NM_130799.2:c.1296G>A, NM_130800.2:c.1311G>A, NM_130801.2:c.1311G>A, NM_130802.2:c.1311G>A, NM_130803.2:c.1311G>A, NM_130804.2:c.1311G>A r.(=) p.(=)
13 Parent #2 ?/? g.48954159C>T - RB1_000002 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-30C>T r.(=) p.(=)
15 Parent #2 ?/? g.91346724A>C - BLM_000026 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3359-27A>C r.(=) p.(=)
16 Parent #2 ?/? g.14020386T>A - ERCC4_000008 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.389-32T>A r.(=) p.(=)
17 Parent #2 -/- g.41226488C>A - BRCA1_000009 rs1800744 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4535G>T, NM_007297.3:c.4394G>T, NM_007298.3:c.1223G>T, NM_007299.3:c.1223G>T, NM_007300.3:c.4598G>T r.(?) p.(Ser1512Ile), p.(Ser1465Ile), p.(Ser408Ile), p.(Ser1533Ile)
Legend