Individual #00020043

Reference -
Gender F
Geographic origin Smyrna, Asia Minor
Geographic origin Corfu
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases 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     
0000012294 54y - - Yes No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000694 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
6 Parent #2 ?/? g.35420304G>C - FANCE_000006 rs13215706 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
10 Parent #2 -?/-? g.89690764A>G - PTEN_000007 rs370918174 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 ?/? g.108121546A>G - ATM_000109 rs1324524747 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1354A>G r.(?) p.(Thr452Ala)
13 Parent #2 -?/-? g.32906831G>A - BRCA2_000110 rs751535164 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1216G>A r.(?) p.(Ala406Thr)
13 Parent #2 ?/? g.32906834C>G - BRCA2_000104 rs781079248 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1219C>G r.(?) p.(Gln407Glu)
15 Parent #2 ./. g.78908082_78908084del - chr15_000005 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #1 ./. g.78908084dup - chr15_000003 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ?/? g.2103320G>A - TSC2_000133 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.226-23G>A, NM_001077183.1:c.226-23G>A, NM_001114382.1:c.226-23G>A r.(=) p.(=)
16 Parent #2 ?/? g.2137984C>T - TSC2_000130 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5068+42C>T, NM_001077183.1:c.4867+42C>T, NM_001114382.1:c.4999+42C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89815060C>A - FANCA_000038 rs185527578 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+7G>T r.(=) p.(=)
17 Parent #2 ?/? g.29554281T>C - NF1_000018 rs863224657 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2297T>C, NM_001042492.2:c.2297T>C, NM_001128147.2:c.*5273T>C r.(?), r.(=) p.(Ile766Thr), p.(=)
17 Parent #2 -?/-? g.29556201C>G - NF1_000006 rs1257258707 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 -/- g.74473023C>T - RHBDF2_000025 rs146134173 - Germline - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1004G>A, NM_024599.5:c.1091G>A r.(?) p.(Arg335Gln), p.(Arg364Gln)
Legend