Individual #00020665

Reference -
Gender F
Geographic origin Erythres, Attika
Geographic origin Pontus
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     
0000013129 32y - - Papillary Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001484 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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     
3 Parent #2 ?/? g.14209731G>C - XPC_000006 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.425+26C>G, NM_004628.4:c.536+26C>G r.(=) p.(=)
3 Parent #2 -/- g.14212047G>A - XPC_000008 rs41545713 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.303C>T, NM_004628.4:c.303C>T r.(=) p.(=)
8 Parent #2 ?/? g.31014923A>G - WRN_000092 rs757172649 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3859A>G r.(?) p.(Ile1287Val)
13 Parent #2 ?/? g.48916887A>G - RB1_000008 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.380+37A>G r.(=) p.(=)
13 Parent #2 ?/? g.48953701C>T - RB1_000010 - - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1333-29C>T r.(=) p.(=)
13 Parent #2 -/- g.49050826G>A - RB1_000001 rs4151624 - Germline - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
16 Parent #2 ?/? g.2121737G>A - TSC2_000015 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1947-48G>A, NM_001077183.1:c.1947-48G>A, NM_001114382.1:c.1947-48G>A r.(=) p.(=)
16 Parent #2 -?/-? g.68835754G>A - CDH1_000006  rs1801023 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.345G>A r.(=) p.(=)
19 Parent #2 ?/? g.45860823G>A - ERCC2_000088 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.1308-22C>T, NM_001130867.1:c.*1295C>T r.(=) p.(=)
Legend