Individual #00019952

Reference -
Gender F
Geographic origin Trikala
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases CerPol, 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     
0000012166 50y - - Yes Yes No - Despoina Kalfakakou

Cervical Polyps (CerPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012167 41y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000599 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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.37035105G>T - MLH1_000057 rs63750823 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.67G>T, NM_001167617.1:c.-450G>T, NM_001167618.1:c.-879G>T, NM_001167619.1:c.-792G>T, NM_001258271.1:c.67G>T, NM_001258273.1:c.-566G>T, NM_001258274.1:c.-1029G>T r.(?), r.(=) p.(Glu23*), p.(=)
9 Parent #2 ?/? g.97887317A>C - FANCC_000018 - - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.996+51T>G, NM_001243743.1:c.996+51T>G, NM_001243744.1:c.996+51T>G r.(=) p.(=)
10 Parent #2 ?/? g.72358215A>C - PRF1_000017 rs200534908 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.1262T>G, NM_005041.4:c.1262T>G r.(?) p.(Phe421Cys)
11 Parent #2 -/- g.44129781G>C - EXT2_000026 rs148121594 - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.618G>C, NM_001178083.1:c.519G>C, NM_207122.1:c.519G>C r.(=) p.(=)
11 Parent #2 ?/? g.47237951A>C - DDB2_000010 rs753467757 - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.192A>C r.(=) p.(=)
11 Parent #2 -?/-? g.108186610G>A - ATM_000002 rs11212587 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.6067G>A r.(?) p.(Gly2023Arg)
15 Parent #2 -/- g.89838176T>G - FANCI_000010 rs145762491 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.2487T>G, NM_018193.2:c.2456+948T>G r.(=) p.(=)
16 Parent #2 ?/? g.2137985G>A - TSC2_000032 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+43G>A, NM_001077183.1:c.4867+43G>A, NM_001114382.1:c.4999+43G>A r.(=) p.(=)
16 Parent #2 ?/? g.14042178G>A - ERCC4_000020 rs140726146 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.2725G>A r.(?) p.(Val909Ile)
17 Parent #2 -/- g.41244952G>A - BRCA1_000058 rs41286300 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2596C>T, NM_007297.3:c.2455C>T, NM_007298.3:c.787+1809C>T, NM_007299.3:c.787+1809C>T, NM_007300.3:c.2596C>T r.(?), r.(=) p.(Arg866Cys), p.(Arg819Cys), p.(=)
18 Parent #2 ./. g.46453484G>C - chr18_000003 - - - - - - - Despoina Kalfakakou - - - -
20 Parent #2 ./. g.60921022C>A - chr20_000003 - - - - - - - Despoina Kalfakakou - - - -
Legend