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     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012279 44y - - Yes Yes No - Despoina Kalfakakou
0000012280 44y - - 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 - Germline - - - - 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 rs780801900 - Germline - - - - 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 - - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.970-33G>A r.(=) p.(=)
8 Parent #2 -/- g.145740622C>T - RECQL4_000022 rs34948955 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1395G>A - p.?
9 Parent #2 ?/? g.98224095C>A - PTCH1_000012 rs1426887822 - Germline - - - - 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 rs780228540 - Germline - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.101C>T r.(?) p.(Ala34Val)
16 Parent #2 -?/-? g.2112941C>G - TSC2_000011 rs45517166 - Germline - - - - 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  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
16 Parent #2 -?/-? g.68842771del - CDH1_000010 rs778134914 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.687+20del r.(=) p.(=)
16 Parent #2 ?/? g.89842176C>G - FANCA_000004 rs139235751 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1874G>C r.(?) p.(Cys625Ser)
21 Parent #2 -/- g.36259125T>C - RUNX1_000006 rs199881885 - Germline - - - - 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