Individual #00019770

Reference -
Gender F
Geographic origin Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CRC, Polyposis
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     
0000011996 56y - - No Yes No - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000011995 56y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000457 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     
3 Parent #2 ?/? g.37061780_37061781del - MLH1_000020 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.885-21_885-20del, NM_001167617.1:c.591-21_591-20del, NM_001167618.1:c.162-21_162-20del, NM_001167619.1:c.162-21_162-20del, NM_001258271.1:c.885-21_885-20del, NM_001258273.1:c.162-21_162-20del, NM_001258274.1:c.162-21_162-20del r.(=) p.(=)
3 Parent #2 ?/? g.37089060G>C - MLH1_000050 - - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1782G>C, NM_001167617.1:c.1488G>C, NM_001167618.1:c.1059G>C, NM_001167619.1:c.1059G>C, NM_001258271.1:c.1782G>C, NM_001258273.1:c.1059G>C, NM_001258274.1:c.1059G>C r.(?) p.(Glu594Asp), p.(Glu496Asp), p.(Glu353Asp)
7 Parent #2 ?/? g.55238941G>A - EGFR_000004 rs17290246 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
7 Parent #2 ?/? g.116380867T>A - MET_000002 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ?/? g.116380868A>T - MET_000003 - - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
9 Parent #2 -/- g.98211319A>G - PTCH1_000007 rs199982439 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3804+32T>C, NM_001083602.1:c.3606+32T>C, NM_001083603.1:c.3801+32T>C, NM_001083604.1:c.3351+32T>C, NM_001083605.1:c.3351+32T>C, NM_001083606.1:c.3351+32T>C, NM_001083607.1:c.3351+32T>C r.(=) p.(=)
16 Parent #2 ?/? g.14026187A>G - ERCC4_000012 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1102+45A>G r.(=) p.(=)
Legend