Individual #00019453

Reference -
Gender F
Geographic origin Asia Minor
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel ID 00017245
Panel size 1
Diseases ColPol, 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     
0000009643 68y - - - - - - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000009644 68y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000902 DNA SEQ-NG-I 1 - 21 Despoina Kalfakakou



Variants

21 entries on 1 page. Showing entries 1 - 21.
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.48010355G>T - MSH6_000039 rs199913053 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.-18G>T, NM_001281492.1:c.-18G>T, NM_001281493.1:c.-754G>T, NM_001281494.1:c.-1532G>T r.(=) p.(=)
2 Parent #2 ?/? g.96920735T>C - TMEM127_000007 - - Germline - - - - Despoina Kalfakakou TMEM127 - NM_001193304.2:c.245A>G, NM_017849.3:c.245A>G r.(?) p.(Asp82Gly)
3 Parent #2 ?/? g.14208787G>C - XPC_000016 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.426-34C>G, NM_004628.4:c.537-34C>G r.(=) p.(=)
5 Parent #2 ./. g.1279999C>T - chr5_000012 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55242391G>A - EGFR_000049 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2185-24G>A, NM_201284.1:c.*4154G>A r.(=) p.(=)
8 Parent #2 -?/-? g.145741236A>G - RECQL4_000050 rs768991485 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1170T>C - p.?
12 Parent #2 -/- g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.336G>A r.(=) p.(=)
12 Parent #2 -?/-? g.121437108C>T - HNF1A_000015 rs193922584 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1539C>T r.(=) p.(=)
13 Parent #2 -?/-? g.32971139G>C - BRCA2_000076 rs755890067 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9606G>C r.(=) p.(=)
16 Parent #2 ?/? g.2105376C>T - TSC2_000166 rs200473689 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.482-27C>T, NM_001077183.1:c.482-27C>T, NM_001114382.1:c.482-27C>T r.(=) p.(=)
16 Parent #2 ?/? g.3646412G>A - SLX4_000068 - - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1684-18C>T r.(=) p.(=)
16 Parent #2 -?/-? g.23634273A>G - PALB2_000009 rs180177128 - Germline - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2996+17T>C r.(=) p.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
17 Parent #2 -/- g.41245900T>G - BRCA1_000081 rs56012641 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1648A>C, NM_007297.3:c.1507A>C, NM_007298.3:c.787+861A>C, NM_007299.3:c.787+861A>C, NM_007300.3:c.1648A>C r.(?), r.(=) p.(Asn550His), p.(Asn503His), p.(=)
17 Parent #2 -/- g.41246092A>G - BRCA1_000083 rs55906931 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1456T>C, NM_007297.3:c.1315T>C, NM_007298.3:c.787+669T>C, NM_007299.3:c.787+669T>C, NM_007300.3:c.1456T>C r.(?), r.(=) p.(Phe486Leu), p.(Phe439Leu), p.(=)
17 Parent #2 -/- g.41251803T>C - BRCA1_000022 rs56187033 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.536A>G, NM_007297.3:c.395A>G, NM_007298.3:c.536A>G, NM_007299.3:c.536A>G, NM_007300.3:c.536A>G r.(?) p.(Tyr179Cys), p.(Tyr132Cys)
19 Parent #2 -?/-? g.1226538G>A - STK11_000027 rs184271025 - Germline - - - - Despoina Kalfakakou STK11 - NM_000455.4:c.1194G>A r.(=) p.(=)
19 Parent #2 -?/-? g.45867799G>A - ERCC2_000031 rs1799792 - Germline - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.601C>T, NM_001130867.1:c.529C>T r.(?) p.(His201Tyr), p.(His177Tyr)
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.(=)
22 Parent #2 ?/? g.30057161C>T - NF2_000026 rs182398380 - Germline - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.676-33C>T, NM_016418.5:c.676-33C>T, NM_181825.2:c.676-33C>T, NM_181828.2:c.550-33C>T, NM_181829.2:c.553-33C>T, NM_181830.2:c.427-33C>T, NM_181831.2:c.427-33C>T, NM_181832.2:c.676-33C>T, NM_181833.2:c.447+18887C>T r.(=) p.(=)
X Parent #2 ?/? g.132670144C>A - GPC3_000014 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.*8G>T, NM_001164618.1:c.*8G>T, NM_001164619.1:c.*8G>T, NM_004484.3:c.*8G>T r.(=) p.(=)
Legend