Individual #00020803

Reference -
Gender F
Geographic origin Livadia
Geographic origin Petroupoli, Attika
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases AGCa, TRC
Owner name Despoina Kalfakakou


Phenotypes

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012598 15y - - Papillary Despoina Kalfakakou

Adrenal Gland Cancer (AGCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012599 0y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001494 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.17355218A>G - SDHB_000003 rs11541235 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ?/? g.29606599T>G - ALK_000082 rs746451923 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1281A>C r.(?) p.(Glu427Asp)
2 Parent #2 ?/? g.47702458T>G - MSH2_000039 - - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.2005+49T>G, NM_001258281.1:c.1807+49T>G r.(=) p.(=)
2 Parent #2 -?/-? g.96920586C>T - TMEM127_000004 rs750870974 - Germline - - - - Despoina Kalfakakou TMEM127 - NM_001193304.2:c.394G>A, NM_017849.3:c.394G>A r.(?) p.(Ala132Thr)
8 Parent #2 +?/+? g.31000141G>A - WRN_000091 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3234-1G>A r.spl? p.?
9 Parent #2 ?/? g.35076393G>A - FANCG_000030 - - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1076+36C>T r.(=) p.(=)
13 Parent #2 -?/-? g.32893271A>G - BRCA2_000087 rs4987046 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.125A>G r.(?) p.(Tyr42Cys)
13 Parent #2 -/- g.32972760G>A - BRCA2_000097 rs28897762 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10110G>A r.(=) p.(=)
14 Parent #2 -/- g.45658292G>A - FANCM_000097 rs148900115 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5067G>A r.(=) p.(=)
21 Parent #2 -?/-? g.36421116T>C - RUNX1_000009 rs117776183 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001754.4:c.58+23A>G r.(=) p.(=)
22 Parent #2 ?/? g.24175942A>G - SMARCB1_000007 - - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.1091+52A>G, NM_003073.3:c.1118+52A>G r.(=) p.(=)
Legend