Individual #00020054

Reference -
Gender F
Geographic origin Ireland
Geographic origin Huddersfield, UK
Population Irish
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     
0000012307 74y - - Left Side - III IV Positive - No No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000704 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.48025988G>A - MSH6_000043 rs63750208 - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.866G>A, NM_001281492.1:c.476G>A, NM_001281493.1:c.-41G>A, NM_001281494.1:c.-41G>A r.(?), r.(=) p.(Gly289Asp), p.(Gly159Asp), p.(=)
2 Parent #2 ./. g.48025989C>A - MSH6_000044 - - - - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.867C>A, NM_001281492.1:c.477C>A, NM_001281493.1:c.-40C>A, NM_001281494.1:c.-40C>A r.(=) p.(=)
3 Parent #2 ./. g.52440347G>A - BAP1_000029 - - - - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.705C>T r.(=) p.(=)
7 Parent #2 ./. g.6026827G>C - PMS2_000024 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.1569C>G r.(=) p.(=)
8 Parent #2 ./. g.119122302A>G - EXT1_000016 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.962+22T>C r.(=) p.(=)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 ./. g.70019012G>A - chr15_000015 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.89816308C>A - FANCA_000083 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3069G>T r.(?) p.(Glu1023Asp)
17 Parent #2 ./. g.41243509T>C - BRCA1_000035 rs28897689 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4039A>G, NM_007297.3:c.3898A>G, NM_007298.3:c.788-460A>G, NM_007299.3:c.788-460A>G, NM_007300.3:c.4039A>G r.(?), r.(=) p.(Arg1347Gly), p.(Arg1300Gly), p.(=)
17 Parent #2 ./. g.74475909C>T - RHBDF2_000022 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.178G>A, NM_024599.5:c.265G>A r.(?) p.(Val60Ile), p.(Val89Ile)
21 Parent #2 ./. g.36252836T>C - RUNX1_000012 - - - - - - - Despoina Kalfakakou RUNX1 - NM_001001890.2:c.427+18A>G, NM_001122607.1:c.427+18A>G, NM_001754.4:c.508+18A>G r.(=) p.(=)
Legend