Individual #00020026

Reference -
Gender M
Geographic origin Arcadia
Geographic origin Ilia
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     

FH of CRC     

Other Lynch associated FH     

FH of Polyposis     

Subtype     

Owner     
0000012270 43y - - Yes No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000675 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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     
1 Parent #2 +?/+? g.241661227_241661228insTTT - FH_000021 rs367543046 Probably associated with Fumarase deficiency only and not with Leiomyomatosis and renal cell cancer Germline - - - - Despoina Kalfakakou FH - NM_000143.3:c.1433_1434insAAA r.(?) p.(Lys477dup)
3 Parent #2 -/- g.37045863C>A - MLH1_000021 rs139620056 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.307-29C>A, NM_001167617.1:c.13-29C>A, NM_001167618.1:c.-417-29C>A, NM_001167619.1:c.-325-29C>A, NM_001258271.1:c.307-29C>A, NM_001258273.1:c.-417-29C>A, NM_001258274.1:c.-417-29C>A r.(=) p.(=)
3 Parent #2 -/- g.37048579A>G - MLH1_000018 rs4647246 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.453+25A>G, NM_001167617.1:c.159+25A>G, NM_001167618.1:c.-271+25A>G, NM_001167619.1:c.-179+25A>G, NM_001258271.1:c.453+25A>G, NM_001258273.1:c.-271+25A>G, NM_001258274.1:c.-271+25A>G r.(=) p.(=)
3 Parent #2 +/+ g.37053589C>T - MLH1_000047 rs63751615 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.676C>T, NM_001167617.1:c.382C>T, NM_001167618.1:c.-48C>T, NM_001167619.1:c.-48C>T, NM_001258271.1:c.676C>T, NM_001258273.1:c.-48C>T, NM_001258274.1:c.-48C>T r.(?), r.(=) p.(Arg226*), p.(Arg128*), p.(=)
7 Parent #2 ?/? g.55270315C>T - EGFR_000018 rs367870311 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3268C>T r.(?) p.(Pro1090Ser)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 -/- g.30954294C>T - WRN_000030 rs148286708 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1909C>T r.(?) p.(Arg637Trp)
8 Parent #2 ./. g.128518531T>C - chr8_000021 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 ?/? g.145739485G>A - RECQL4_000107 rs772074149 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1885C>T - p.?
9 Parent #2 ./. g.22033388T>C - chr9_000005 - - - - - - - Despoina Kalfakakou - - - -
15 Parent #2 -?/-? g.91347463T>A - BLM_000004 rs1801256 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3625T>A r.(?) p.(Ser1209Thr)
16 Parent #2 -/- g.3632347T>C - SLX4_000011 rs111738042 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5501A>G r.(?) p.(Asn1834Ser)
17 Parent #2 -?/-? g.7579642C>T - TP53_000011 - - Germline - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.97-52G>A, NM_001126112.2:c.97-52G>A, NM_001126113.2:c.97-52G>A, NM_001126114.2:c.97-52G>A, NM_001126115.1:c.-1109G>A, NM_001126116.1:c.-1109G>A, NM_001126117.1:c.-1109G>A, NM_001126118.1:c.-21-52G>A, NM_001276695.1:c.-21-52G>A, NM_001276696.1:c.-21-52G>A, NM_001276697.1:c.-1190G>A, NM_001276698.1:c.-1190G>A, NM_001276699.1:c.-1190G>A, NM_001276760.1:c.-21-52G>A, NM_001276761.1:c.-21-52G>A r.(=) p.(=)
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