Individual #00019744

Reference -
Gender M
Geographic origin Kria Vrisi, Giannitsa
Geographic origin Armenoi, Messenia
Population Greek
Consanguinity no
Remarks -
Panel size 2
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     
0000011968 40y - - Right Side Mucinous III III Positive High Yes Yes No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000411 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.29451889G>A - ALK_000020 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2676C>T r.(=) p.(=)
3 Parent #2 ./. g.37083760G>T - MLH1_000036 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1669G>T, NM_001167617.1:c.1375G>T, NM_001167618.1:c.946G>T, NM_001167619.1:c.946G>T, NM_001258271.1:c.1669G>T, NM_001258273.1:c.946G>T, NM_001258274.1:c.946G>T r.(?) p.(Glu557*), p.(Glu459*), p.(Glu316*)
11 Parent #2 ./. g.61205157C>T - SDHAF2_000004 - - - - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.97C>T r.(?) p.(Arg33Cys)
13 Parent #2 ./. g.103504677T>G - ERCC5_000033 - - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.264+34T>G r.(=) p.(=)
16 Parent #2 ./. g.2103392A>T - TSC2_000059 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.275A>T, NM_001077183.1:c.275A>T, NM_001114382.1:c.275A>T r.(?) p.(Glu92Val)
16 Parent #2 ./. g.2127595A>G - TSC2_000058 rs45517272 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.2838-4A>G, NM_001077183.1:c.2837+1009A>G, NM_001114382.1:c.2838-4A>G r.spl?, r.(=) p.?, p.(=)
16 Parent #2 ./. g.3640715G>A - SLX4_000018 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2924C>T r.(?) p.(Pro975Leu)
17 Parent #2 ./. g.74473072G>A - RHBDF2_000008 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.955C>T, NM_024599.5:c.1042C>T r.(?) p.(Arg319Trp), p.(Arg348Trp)
Legend