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     

OvCa FH     

Subtype     

Owner     
0000013239 32y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000422 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.765+29G>A r.(=) p.(=)
3 Parent #2 ?/? g.10127653A>G - FANCD2_000034 - - Germline - - - - 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 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.*10A>G r.(=) p.(=)
7 Parent #2 ?/? g.66453515C>A - SBDS_000009 - - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.625-29G>T r.(=) p.(=)
9 Parent #2 ?/? g.98211524G>A - PTCH1_000020 rs139495263 - Germline - - - - 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.29559049C>T - NF1_000128 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3198-42C>T, NM_001042492.2:c.3198-42C>T r.(=) p.(=)
Legend