Individual #00020131

Reference -
Gender F
Geographic origin Aris, Kalamata
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol
Owner name Despoina Kalfakakou


Phenotypes

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012997 75y - - Tubular Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001655 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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     
7 Parent #2 ./. g.21938271_21938272insCC - chr7_000011 - - - - - - - Despoina Kalfakakou - - - -
9 Parent #2 ?/? g.35075528T>A - FANCG_000004 rs148808709 - Germline - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1367A>T r.(?) p.(His456Leu)
16 Parent #2 ?/? g.2103372C>T - TSC2_000039 rs45517098 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 -/- g.2138086C>A - TSC2_000033 rs45483700 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5106C>A, NM_001077183.1:c.4905C>A, NM_001114382.1:c.5037C>A r.(=) p.(=)
18 Parent #2 ?/? g.48591747A>T - SMAD4_000034 - - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.956-46A>T r.(=) p.(=)
19 Parent #2 ?/? g.45873501G>A - ERCC2_000098 - - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.6-11C>T, NM_001130867.1:c.-78C>T r.(=) p.(=)
Legend