Individual #00021429

Reference -
Gender F
Geographic origin Moschofito,Trikala
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     

OvCa FH     

Subtype     

Owner     
0000013975 72y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006945 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
7 Parent #2 ?/? g.6022480C>T - PMS2_000014 rs201671325 - Germline - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.2149G>A r.(?) p.(Val717Met)
9 Parent #2 ?/? g.98244530G>C - PTCH1_000092 rs191283926 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.585-45C>G, NM_001083602.1:c.387-45C>G, NM_001083603.1:c.582-45C>G, NM_001083604.1:c.132-45C>G, NM_001083605.1:c.132-45C>G, NM_001083606.1:c.132-45C>G, NM_001083607.1:c.132-45C>G r.(=) p.(=)
9 Parent #2 ?/? g.100459556C>T - XPA_000013 rs776601238 - Germline - - - - Despoina Kalfakakou XPA - NM_000380.3:c.19G>A r.(?) p.(Ala7Thr)
9 Parent #2 -?/-? g.135786867C>T - TSC1_000059 rs200820603 - Germline - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.1002G>A, NM_001162426.1:c.1002G>A, NM_001162427.1:c.849G>A r.(=) p.(=)
10 Parent #2 -?/-? g.43609938C>T - RET_000001 rs781145070 - Germline - - - - Despoina Kalfakakou RET - NM_020630.4:c.1890C>T, NM_020975.4:c.1890C>T r.(=) p.(=)
11 Parent #2 ?/? g.47254479C>T - DDB2_000032 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.571C>T r.(=) p.(=)
12 Parent #2 -/- g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.336G>A r.(=) p.(=)
12 Parent #2 -?/-? g.121437108C>T - HNF1A_000015 rs193922584 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
13 Parent #2 -?/-? g.32954037A>C - BRCA2_000067 rs80359165 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9104A>C r.(?) p.(Tyr3035Ser)
Legend