Individual #00019896

Reference -
Gender F
Geographic origin Selianitika, Aigio
Geographic origin Aigio
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     
0000012102 49y - - No No No - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012103 49y - - Tubular, Serrated Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000545 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.45798269T>C - MUTYH_000016 rs200872702 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.625A>G, NM_001048172.1:c.586A>G, NM_001048173.1:c.583A>G, NM_001048174.1:c.583A>G, NM_001128425.1:c.667A>G, NM_012222.2:c.658A>G r.(?) p.(Ile209Val), p.(Ile196Val), p.(Ile195Val), p.(Ile223Val), p.(Ile220Val)
5 Parent #2 ./. g.56031872G>C - chr5_000020 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.104353395C>T - SUFU_000004 rs149513330 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.600C>T, NM_016169.3:c.600C>T r.(=) p.(=)
10 Parent #2 ?/? g.104359271G>A - SUFU_000013 rs141359583 - Germline - - - - Despoina Kalfakakou SUFU - NM_001178133.1:c.992G>A, NM_016169.3:c.992G>A r.(?) p.(Arg331Gln)
11 Parent #2 ?/? g.47236746G>A - DDB2_000007 - - Germline - - - - Despoina Kalfakakou DDB2 - NM_000107.2:c.59G>A r.(?) p.(Arg20Lys)
16 Parent #2 -/- g.2121948G>A - TSC2_000111 rs367915255 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2097+13G>A, NM_001077183.1:c.2097+13G>A, NM_001114382.1:c.2097+13G>A r.(=) p.(=)
16 Parent #2 -/- g.2134982_2134984del - TSC2_000085 rs137854239 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4524_4526del, NM_001077183.1:c.4323_4325del, NM_001114382.1:c.4455_4457del r.(?) p.(Phe1510del), p.(Phe1443del), p.(Phe1487del)
16 Parent #2 -?/-? g.2138097G>A - TSC2_000077 rs45517392 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5117G>A, NM_001077183.1:c.4916G>A, NM_001114382.1:c.5048G>A r.(?) p.(Arg1706His), p.(Arg1639His), p.(Arg1683His)
16 Parent #2 -/- g.68855966G>A - CDH1_000014 rs35187787 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1774G>A r.(?) p.(Ala592Thr)
22 Parent #2 ./. g.33229841A>G - chr22_000005 - - - - - - - Despoina Kalfakakou - - - -
Legend