Individual #00019863

Reference -
Gender M
Geographic origin Pyrgos, Laconia
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol, CRC, GaPol
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     
0000012081 65y - - Yes No No - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012076 54y - - Tubular Despoina Kalfakakou
0000012078 56y - - - Despoina Kalfakakou

Gastric Polyps (GaPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012077 54y - - - Despoina Kalfakakou
0000012079 56y - - - Despoina Kalfakakou
0000012080 62y - - Hemorragic Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000521 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.45797255G>A - MUTYH_000008 rs3219490 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145-27C>T, NM_001048172.1:c.1106-27C>T, NM_001048173.1:c.1103-27C>T, NM_001048174.1:c.1103-27C>T, NM_001128425.1:c.1187-27C>T, NM_012222.2:c.1178-27C>T r.(=) p.(=)
3 Parent #2 ?/? g.10106386A>G - FANCD2_000005 rs4019783 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.2022-27A>G, NM_033084.3:c.2022-27A>G r.(=) p.(=)
3 Parent #2 ?/? g.37092094C>A - MLH1_000055 rs786203583 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.2221C>A, NM_001167617.1:c.1927C>A, NM_001167618.1:c.1498C>A, NM_001167619.1:c.1498C>A, NM_001258271.1:c.2014C>A, NM_001258273.1:c.1498C>A, NM_001258274.1:c.1498C>A r.(?) p.(Leu741Met), p.(Leu643Met), p.(Leu500Met), p.(Leu672Met)
5 Parent #2 -/- g.112173250G>A - APC_000010 rs72541809 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
5 Parent #2 ?/? g.112174677T>C - APC_000027 rs143638171 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.3386T>C, NM_001127510.2:c.3386T>C, NM_001127511.2:c.3332T>C r.(?) p.(Leu1129Ser), p.(Leu1111Ser)
12 Parent #2 -?/-? g.121437267G>A - HNF1A_000021 rs193922586 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1624-19G>A r.(=) p.(=)
13 Parent #2 -/- g.32906593C>A - BRCA2_000041 rs28897706 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.978C>A r.(?) p.(Ser326Arg)
16 Parent #2 -/- g.2136851C>T - TSC2_000107 rs182327684 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4968C>T, NM_001077183.1:c.4767C>T, NM_001114382.1:c.4899C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89805495G>A - FANCA_000066 rs191404781 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.4167+46C>T r.(=) p.(=)
21 Parent #2 -?/-? g.36206858G>A - RUNX1_000004 rs145230602 - Germline - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.573C>T, NM_001122607.1:c.573C>T, NM_001754.4:c.654C>T r.(=) p.(=)
22 Parent #2 -/- g.24135882C>T - SMARCB1_000009 rs34746244 - Germline - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.335+7C>T, NM_003073.3:c.362+7C>T r.(=) p.(=)
Legend