Individual #00020667

Reference -
Gender F
Geographic origin Agia Triada, Argolis
Geographic origin Neo Roino, Argolis
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases TRC
Owner name Despoina Kalfakakou


Phenotypes

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000013133 25y - - Papillary Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001487 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.161326643G>A - SDHC_000024 rs369274171 - Germline - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5476G>A, NM_001035512.1:c.303+13G>A, NM_001035513.1:c.246+13G>A, NM_001278172.1:c.140-5476G>A, NM_003001.3:c.405+13G>A r.(=) p.(=)
8 Parent #2 -/- g.30921954G>C - WRN_000020 rs145764920 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.355+4G>C r.spl? p.?
8 Parent #2 ?/? g.145736832G>A - RECQL4_000073 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3610C>T - p.?
8 Parent #2 ?/? g.145739833A>G - RECQL4_000126 rs201648505 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1697T>C - p.?
10 Parent #2 -?/-? g.104353395C>T - SUFU_000004 rs149513330 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.600C>T, NM_016169.3:c.600C>T r.(=) p.(=)
11 Parent #2 ?/? g.95532375A>G - CEP57_000005 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.19-21A>G, NM_001243777.1:c.46-21A>G, NM_014679.4:c.46-21A>G r.(=) p.(=)
13 Parent #2 -/- g.32972745C>T - BRCA2_000145 rs1060504607 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10095C>T r.(=) p.(=)
16 Parent #2 ?/? g.89862278T>C - FANCA_000070 - - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1006+36A>G, NM_001018112.1:c.*3209A>G r.(=) p.(=)
Legend