Individual #00019983

Reference -
Gender M
Geographic origin Lamia
Geographic origin Kamena Vourla
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     
0000012205 51y - - Yes No No - Despoina Kalfakakou

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012206 51y - - Serrated Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000629 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     
2 Parent #2 ?/? g.47672731A>T - MSH2_000041 rs587779086 - Germline - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1321A>T, NM_001258281.1:c.1123A>T r.(?) p.(Thr441Ser), p.(Thr375Ser)
3 Parent #1 -/- g.37067094_37067102del - MLH1_000003 rs57509953 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 -?/-? g.37067095_37067102del - MLH1_000024 rs766706153 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 ./. g.63752166del - chr10_000019 - - - - - - - Despoina Kalfakakou - - - -
12 Parent #2 ./. g.125320832C>T - chr12_000002 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2122392del - TSC2_000019 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2220+28del, NM_001077183.1:c.2220+28del, NM_001114382.1:c.2220+28del r.(=) p.(=)
17 Parent #2 ?/? g.29497013A>G - NF1_000191 rs587778552 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.584A>G, NM_001042492.2:c.584A>G, NM_001128147.2:c.584A>G r.(?) p.(Lys195Arg)
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.(=)
17 Parent #2 -?/-? g.56772522G>A - RAD51C_000007 rs61758784 - Germline - - - - Despoina Kalfakakou RAD51C - NM_002876.3:c.376G>A, NM_058216.2:c.376G>A r.(?) p.(Ala126Thr)
17 Parent #2 -?/-? g.56780540G>T - RAD51C_000004 rs193023469 - Germline - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.572-17G>T r.(=) p.(=)
17 Parent #2 ?/? g.74470000A>T - RHBDF2_000013 - - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1575-16T>A, NM_024599.5:c.1662-16T>A r.(=) p.(=)
Legend