Individual #00022012

Reference -
Gender F
Geographic origin Pelion
Geographic origin Volos
Population -
Consanguinity -
Remarks -
Panel size 1
Diseases ColPol, GaPol
Owner name Despoina Kalfakakou


Phenotypes

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000014077 59y - - - Despoina Kalfakakou

Gastric Polyps (GaPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000014078 59y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007026 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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.45798269T>C - MUTYH_000016 rs200872702 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.625A>G, NM_001048172.1:c.586A>G, NM_001048173.1:c.583A>G, NM_001048174.1:c.583A>G, NM_001128425.1:c.667A>G, NM_012222.2:c.658A>G r.(?) p.(Ile209Val), p.(Ile196Val), p.(Ile195Val), p.(Ile223Val), p.(Ile220Val)
1 Parent #2 ./. g.222164942T>A - chr1_000022 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 -?/-? g.176636958G>A - NSD1_000038 rs559617787 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.1558G>A, NM_172349.2:c.751G>A r.(?) p.(Ala520Thr), p.(Ala251Thr)
8 Parent #2 ?/? g.30922424G>A - WRN_000136 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.356-7G>A r.(=) p.(=)
11 Parent #2 ?/? g.95546617A>G - CEP57_000044 - - Germline - - - - Despoina Kalfakakou CEP57 - NM_001243776.1:c.356-15A>G, NM_001243777.1:c.383-15A>G, NM_014679.4:c.383-15A>G r.(=) p.(=)
14 Parent #2 -?/-? g.95599776T>C - DICER1_000009  rs117358479 - Germline - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.20A>G, NM_001271282.1:c.20A>G, NM_030621.3:c.20A>G, NM_177438.2:c.20A>G r.(?) p.(Gln7Arg)
17 Parent #2 ?/? g.29552285C>A - NF1_000014 - - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2001+17C>A, NM_001042492.2:c.2001+17C>A, NM_001128147.2:c.*3277C>A r.(=) p.(=)
Legend