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     

Subcategory     

Histology     

Grade     

Stage     

LN     

MSI     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012294 54y - - Right Side Mucinous II - Positive - Yes No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000694 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
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 - - - - - - - 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 - - - - - - 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 - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.-19G>C r.(=) p.(=)
8 Parent #2 ./. g.145737701C>T - RECQL4_000002 rs34666647 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
10 Parent #2 ./. g.89690764A>G - PTEN_000007 - - - - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.210-39A>G r.(=) p.(=)
11 Parent #2 ./. g.108121546A>G - ATM_000109 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1354A>G r.(?) p.(Thr452Ala)
13 Parent #2 ./. g.32906831G>A - BRCA2_000110 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.1216G>A r.(?) p.(Ala406Thr)
13 Parent #2 ./. g.32906834C>G - BRCA2_000104 - - - - - - - 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 - - - - - - - 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 - - - - - - - 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 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+7G>T r.(=) p.(=)
17 Parent #2 ./. g.29554281T>C - NF1_000018 - - - - - - - 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 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2568C>G, NM_001042492.2:c.2568C>G r.(?) p.(Ser856Arg)
17 Parent #2 ./. g.29556390T>C - NF1_000059 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.2757T>C, NM_001042492.2:c.2757T>C r.(=) p.(=)
17 Parent #2 ./. g.74473023C>T - RHBDF2_000025 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1004G>A, NM_024599.5:c.1091G>A r.(?) p.(Arg335Gln), p.(Arg364Gln)
Legend