Individual #00019876

Reference -
Gender F
Geographic origin Anogia, Laconia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000012089 62y - - Tubular, Hyperplastic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000530 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou



Variants

4 entries on 1 page. Showing entries 1 - 4.
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.190660525C>T - PMS1_000027 rs375147123 - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.163C>T, NM_001128143.1:c.163C>T, NM_001128144.1:c.163C>T r.(?) p.(Arg55*)
14 Parent #2 ?/? g.45624550A>G - FANCM_000003 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1310-26A>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)
15 Parent #2 ?/? g.91347616G>A - BLM_000040 - - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3751+27G>A r.(=) p.(=)
Legend