Individual #00019864

Reference -
Gender F
Geographic origin Kranea, Elassona
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CRC
Owner name Despoina Kalfakakou


Phenotypes

Colorectal cancer (CRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012082 38y - - Yes Yes No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000523 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     
2 Parent #2 -/- g.47698108T>C - MSH2_000026 rs61756466 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
3 Parent #2 ?/? g.52442670A>C - BAP1_000006 - - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.123-48T>G r.(=) p.(=)
7 Parent #2 ?/? g.55259373G>A - EGFR_000021 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2470-39G>A r.(=) p.(=)
8 Parent #2 -/- g.30921954G>C - WRN_000020 rs145764920 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.355+4G>C r.spl? p.?
11 Parent #2 -/- g.44129522T>G - EXT2_000030 rs140075817 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.359T>G, NM_001178083.1:c.260T>G, NM_207122.1:c.260T>G r.(?) p.(Met120Arg), p.(Met87Arg)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
Legend