Individual #00020033

Reference -
Gender F
Geographic origin Corfu
Geographic origin Rethimno, Crete
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     
0000012279 44y - - Left Side Mucinous II - - - Yes Yes No - Despoina Kalfakakou
0000012280 44y - - Left Side - III - Positive - Yes Yes No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000683 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     
3 Parent #2 ./. g.37055947G>A - MLH1_000033 rs35908749 - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.702G>A, NM_001167617.1:c.408G>A, NM_001167618.1:c.-22G>A, NM_001167619.1:c.-22G>A, NM_001258271.1:c.702G>A, NM_001258273.1:c.-22G>A, NM_001258274.1:c.-22G>A r.(=) p.(=)
5 Parent #2 ./. g.176637804G>A - NSD1_000040 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.2404G>A, NM_172349.2:c.1597G>A r.(?) p.(Glu802Lys), p.(Glu533Lys)
6 Parent #2 ./. g.35426041G>A - FANCE_000024 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.970-33G>A r.(=) p.(=)
8 Parent #2 ./. g.145740622C>T - RECQL4_000022 rs34948955 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1395G>A - p.?
9 Parent #2 ./. g.98224095C>A - PTCH1_000012 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2703+43G>T, NM_001083602.1:c.2505+43G>T, NM_001083603.1:c.2700+43G>T, NM_001083604.1:c.2250+43G>T, NM_001083605.1:c.2250+43G>T, NM_001083606.1:c.2250+43G>T, NM_001083607.1:c.2250+43G>T r.(=) p.(=)
11 Parent #2 ./. g.22647256G>A - FANCF_000013 - - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.101C>T r.(?) p.(Ala34Val)
16 Parent #2 ./. g.2112941C>G - TSC2_000011 rs45517166 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1362-32C>G, NM_001077183.1:c.1362-32C>G, NM_001114382.1:c.1362-32C>G r.(=) p.(=)
16 Parent #2 ./. g.3658876G>A - SLX4_000010 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 ./. g.68842771del - CDH1_000010 - - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.687+20del r.(=) p.(=)
16 Parent #2 ./. g.89842176C>G - FANCA_000004 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
21 Parent #2 ./. g.36259125T>C - RUNX1_000006 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.270+15A>G, NM_001122607.1:c.270+15A>G, NM_001754.4:c.351+15A>G r.(=) p.(=)
Legend