Individual #00020058

Reference -
Gender F
Geographic origin Ioannina
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
Diseases Polyposis, 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     
0000012311 18y - - - III - - Papillary Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012312 27y - - - Tubulovillous Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000708 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
2 Parent #2 ./. g.190718999C>T - PMS1_000011 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1001C>T, NM_001128143.1:c.884C>T, NM_001128144.1:c.1001C>T r.(?) p.(Thr334Met), p.(Thr295Met)
2 Parent #2 ./. g.233201351_233201359del - DIS3L2_000045 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-6704_1582-6696del, NM_152383.4:c.*11_*19del r.(=) p.(=)
4 Parent #2 ./. g.55561907C>T - KIT_000035 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.297C>T, NM_001093772.1:c.297C>T r.(=) p.(=)
5 Parent #2 ./. g.112163696_112163697insAA - APC_000053 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.1619_1620insAA, NM_001127510.2:c.1619_1620insAA, NM_001127511.2:c.1565_1566insAA r.(?) p.(Gln541Asnfs*9), p.(Gln523Asnfs*9)
6 Parent #2 ./. g.32578071G>A - chr6_000017 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.61213555C>T - SDHAF2_000003 - - - - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.*12C>T r.(=) p.(=)
15 Parent #2 ./. g.89817386A>T - FANCI_000026 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.976-13A>T, NM_018193.2:c.976-13A>T r.(=) p.(=)
15 Parent #2 ./. g.89828482A>C - FANCI_000020 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1821+33A>C, NM_018193.2:c.1821+33A>C r.(=) p.(=)
15 Parent #2 ./. g.89835937A>G - FANCI_000005 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2011A>G, NM_018193.2:c.2011A>G r.(?) p.(Ile671Val)
15 Parent #2 ./. g.89838293A>C - FANCI_000011 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2604A>C, NM_018193.2:c.2456+1065A>C r.(?), r.(=) p.(Glu868Asp), p.(=)
15 Parent #2 ./. g.89848645_89848646insT - FANCI_000015 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3255+5_3255+6insT, NM_018193.2:c.3075+5_3075+6insT r.(=) p.(=)
16 Parent #2 ./. g.89815038G>A - FANCA_000026 rs1800348 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
22 Parent #2 ./. g.29099571A>G - CHEK2_000022 - - - - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.976-17T>C, NM_001257387.1:c.184-17T>C, NM_007194.3:c.847-17T>C, NM_145862.2:c.847-17T>C r.(=) p.(=)
Legend