Individual #00021240

Reference -
Gender F
Geographic origin Ptolemaida
Geographic origin Nemea
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     
0000013239 32y - - I Serous - Yes - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000422 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
1 Parent #2 ./. g.17349074C>T - SDHB_000001 rs41273161 - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.765+29G>A r.(=) p.(=)
3 Parent #2 ./. g.10127653A>G - FANCD2_000034 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3335+47A>G, NM_033084.3:c.3335+47A>G r.(=) p.(=)
7 Parent #2 ./. g.66453348T>C - SBDS_000005 rs11557421 - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
7 Parent #2 ./. g.66453515C>A - SBDS_000009 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
9 Parent #2 ./. g.98211524G>A - PTCH1_000020 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3631C>T, NM_001083602.1:c.3433C>T, NM_001083603.1:c.3628C>T, NM_001083604.1:c.3178C>T, NM_001083605.1:c.3178C>T, NM_001083606.1:c.3178C>T, NM_001083607.1:c.3178C>T r.(?) p.(Pro1211Ser), p.(Pro1145Ser), p.(Pro1210Ser), p.(Pro1060Ser)
17 Parent #2 ./. g.29541589A>G - NF1_000056 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1513A>G, NM_001042492.2:c.1513A>G, NM_001128147.2:c.1513A>G r.(?) p.(Lys505Glu)
17 Parent #2 ./. g.29550446C>T - NF1_000044 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1722-16C>T, NM_001042492.2:c.1722-16C>T, NM_001128147.2:c.*1438C>T r.(=) p.(=)
17 Parent #2 ./. g.29559049C>T - NF1_000128 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3198-42C>T, NM_001042492.2:c.3198-42C>T r.(=) p.(=)
17 Parent #2 ./. g.29559836A>G - NF1_000054 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3433A>G, NM_001042492.2:c.3433A>G r.(?) p.(Thr1145Ala)
17 Parent #2 ./. g.29559838G>A - NF1_000053 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3435G>A, NM_001042492.2:c.3435G>A r.(=) p.(=)
Legend