Individual #00019964

Reference -
Gender M
Geographic origin Athens
Geographic origin Drama
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     
0000012179 44y - - Right Side - III II Negative - Yes Yes No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000609 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     
2 Parent #2 ./. g.43553962del - chr2_000014 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.48027755T>C - MSH6_000008 rs2020912 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2633T>C, NM_001281492.1:c.2243T>C, NM_001281493.1:c.1727T>C, NM_001281494.1:c.1727T>C r.(?) p.(Val878Ala), p.(Val748Ala), p.(Val576Ala)
2 Parent #2 ./. g.190742046G>A - PMS1_000026 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.2683G>A, NM_001128143.1:c.2566G>A, NM_001128144.1:c.2197G>A r.(?) p.(Glu895Lys), p.(Glu856Lys), p.(Glu733Lys)
3 Parent #2 ./. g.37035159G>C - MLH1_000052 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.116+5G>C, NM_001167617.1:c.-396G>C, NM_001167618.1:c.-825G>C, NM_001167619.1:c.-738G>C, NM_001258271.1:c.116+5G>C, NM_001258273.1:c.-517+5G>C, NM_001258274.1:c.-975G>C r.spl?, r.(=) p.?, p.(=)
3 Parent #2 ./. g.37067098_37067102del - MLH1_000006 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-30_1039-26del, NM_001167617.1:c.745-30_745-26del, NM_001167618.1:c.316-30_316-26del, NM_001167619.1:c.316-30_316-26del, NM_001258271.1:c.1039-30_1039-26del, NM_001258273.1:c.316-30_316-26del, NM_001258274.1:c.316-30_316-26del r.(=) p.(=)
5 Parent #2 ./. g.176721427C>A - NSD1_000032 - - - - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7058C>A, NM_172349.2:c.6251C>A r.(?) p.(Pro2353His), p.(Pro2084His)
10 Parent #2 ./. g.88659672G>A - BMPR1A_000002 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+25G>A r.(=) p.(=)
11 Parent #2 ./. g.67258445G>A - AIP_000014 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.974G>A r.(?) p.(Arg325Gln)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.50813545T>G - CYLD_000015 - - - - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.1130-31T>G, NM_001042412.1:c.1130-31T>G, NM_015247.2:c.1139-31T>G r.(=) p.(=)
16 Parent #2 ./. g.68853297G>C - CDH1_000013 rs35741240 - - - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1680G>C r.(=) p.(=)
Legend