Individual #00020042

Reference -
Gender F
Geographic origin Kefalonia
Geographic origin Amaliada
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     
0000012293 59y - - Tubular, Serrated Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000693 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.222045402del - chr1_000001 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ?/? g.29456609T>C - ALK_000023 - - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2356-47A>G r.(=) p.(=)
4 Parent #2 ?/? g.55598212del - KIT_000007 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48del, NM_001093772.1:c.2349+48del r.(=) p.(=)
4 Parent #1 ?/? g.55598212dup - KIT_000006 - - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2361+48dup, NM_001093772.1:c.2349+48dup r.(=) p.(=)
7 Parent #2 +?/+? g.66459197A>G - SBDS_000006 rs113993993 - Germline - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.258+2T>C r.spl? p.?
7 Parent #2 -?/-? g.148508759A>G - EZH2_000025 rs372010918 - Germline - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.1890T>C, NM_001203248.1:c.1863T>C, NM_001203249.1:c.1737T>C, NM_004456.4:c.1905T>C, NM_152998.2:c.1773T>C r.(=) p.(=)
10 Parent #2 -?/-? g.104357064C>T - SUFU_000003 rs202247757 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.910+14C>T, NM_016169.3:c.910+14C>T r.(=) p.(=)
17 Parent #2 ?/? g.66511747T>G - PRKAR1A_000002 - - Germline - - - - Despoina Kalfakakou PRKAR1A - NM_001276289.1:c.177+30T>G, NM_001276290.1:c.177+30T>G, NM_002734.4:c.177+30T>G, NM_212471.2:c.177+30T>G, NM_212472.2:c.177+30T>G r.(=) p.(=)
Legend