Individual #00020053

Reference -
Gender F
Geographic origin Messenia
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     
0000012306 36y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000702 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     
1 Parent #2 ./. g.121280606C>T - chr1_000002 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 -?/-? g.48032717T>A - MSH6_000003 rs189436849 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.3557-40T>A, NM_001281492.1:c.3167-40T>A, NM_001281493.1:c.2651-40T>A, NM_001281494.1:c.2651-40T>A r.(=) p.(=)
8 Parent #2 -?/-? g.30999079A>T - WRN_000051 rs200370409 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3101A>T r.(?) p.(Tyr1034Phe)
9 Parent #2 -?/-? g.98232081G>A - PTCH1_000016 rs202007968 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.1847+14C>T, NM_001083602.1:c.1649+14C>T, NM_001083603.1:c.1844+14C>T, NM_001083604.1:c.1394+14C>T, NM_001083605.1:c.1394+14C>T, NM_001083606.1:c.1394+14C>T, NM_001083607.1:c.1394+14C>T r.(=) p.(=)
11 Parent #2 -?/-? g.61213555C>T - SDHAF2_000003 rs113652589 - Germline - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.*12C>T r.(=) p.(=)
15 Parent #2 ?/? g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.191A>T r.(?) p.(Asp64Val)
17 Parent #2 -?/-? g.17119725G>A - FLCN_000001 rs41464156 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4968C>T, NM_144997.5:c.1269C>T r.(=) p.(=)
17 Parent #2 ?/? g.17125765C>A - FLCN_000007 rs112496006 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+50G>T, NM_144997.5:c.779+50G>T r.(=) p.(=)
20 Parent #2 ./. g.60921022C>A - chr20_000003 - - - - - - - Despoina Kalfakakou - - - -
Legend