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     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000012598 15y - - - I - - Papillary Despoina Kalfakakou

Adrenal Gland Cancer (AGCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

LN     

Histology     

Subtype     

Owner     
0000012599 0y Neuroblastoma - - - - - - 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 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.300T>C r.(=) p.(=)
2 Parent #2 ./. g.29606599T>G - ALK_000082 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1281A>C r.(?) p.(Glu427Asp)
2 Parent #2 ./. g.47702458T>G - MSH2_000039 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3234-1G>A r.spl? p.?
9 Parent #2 ./. g.35076393G>A - FANCG_000030 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1076+36C>T r.(=) p.(=)
13 Parent #2 ./. g.32893271A>G - BRCA2_000087 rs4987046 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.125A>G r.(?) p.(Tyr42Cys)
13 Parent #2 ./. g.32972760G>A - BRCA2_000097 rs28897762 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10110G>A r.(=) p.(=)
14 Parent #2 ./. g.45658292G>A - FANCM_000097 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5067G>A r.(=) p.(=)
21 Parent #2 ./. g.36421116T>C - RUNX1_000009 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001754.4:c.58+23A>G r.(=) p.(=)
22 Parent #2 ./. g.24175942A>G - SMARCB1_000007 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.1091+52A>G, NM_003073.3:c.1118+52A>G r.(=) p.(=)
Legend