Individual #00020025

Reference -
Gender F
Geographic origin Zimbabwe
Geographic origin -
Population Zimbabwe
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     
0000012269 46y - - Right Side - II - - - No Yes No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000673 DNA SEQ-NG-I 1 - 45 Despoina Kalfakakou



Variants

45 entries on 1 page. Showing entries 1 - 45.
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.17380551A>G - SDHB_000014 - - - - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.-37T>C r.(=) p.(=)
1 Parent #2 ./. g.161293488A>T - SDHC_000001 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+28A>T, NM_001035512.1:c.77+28A>T, NM_001035513.1:c.20+9273A>T, NM_001278172.1:c.77+28A>T, NM_003001.3:c.77+28A>T r.(=) p.(=)
1 Parent #2 ./. g.241675239_241675240insA - FH_000022 - - - - - - - Despoina Kalfakakou FH - NM_000143.3:c.555+27_555+28insT r.(=) p.(=)
2 Parent #2 ./. g.8178696G>C - chr2_000017 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ./. g.29432788G>C - ALK_000047 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.3744-44C>G r.(=) p.(=)
2 Parent #2 ./. g.29474042G>A - ALK_000044 rs77102810 - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2133C>T r.(=) p.(=)
2 Parent #2 ./. g.47602434C>T - EPCAM_000018 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.487C>T r.(?) p.(Arg163Trp)
2 Parent #2 ./. g.190708640T>C - PMS1_000032 rs5743111 - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.583-50T>C, NM_001128143.1:c.583-8741T>C, NM_001128144.1:c.583-50T>C r.(=) p.(=)
2 Parent #2 ./. g.190717555_190717556insT - PMS1_000031 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.822+52_822+53insT, NM_001128143.1:c.705+52_705+53insT, NM_001128144.1:c.822+52_822+53insT r.(=) p.(=)
2 Parent #2 ./. g.190718845A>G - PMS1_000028 rs5743135 - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.966+37A>G, NM_001128143.1:c.849+37A>G, NM_001128144.1:c.966+37A>G r.(=) p.(=)
2 Parent #2 ./. g.190719621T>G - PMS1_000029 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1623T>G, NM_001128143.1:c.1506T>G, NM_001128144.1:c.1623T>G r.(=) p.(=)
3 Parent #2 ./. g.37038205G>A - MLH1_000064 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.207+5G>A, NM_001167617.1:c.-83+5G>A, NM_001167618.1:c.-517+5G>A, NM_001167619.1:c.-425+5G>A, NM_001258271.1:c.207+5G>A, NM_001258273.1:c.-517+3051G>A, NM_001258274.1:c.-662+5G>A r.spl?, r.(=) p.?, p.(=)
5 Parent #2 ./. g.112173884C>T - APC_000054 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.2593C>T, NM_001127510.2:c.2593C>T, NM_001127511.2:c.2539C>T r.(?) p.(Pro865Ser), p.(Pro847Ser)
8 Parent #2 ./. g.145741989G>A - RECQL4_000099 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.514C>T - p.?
8 Parent #2 ./. g.145743144C>T - RECQL4_000102 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.25G>A - p.?
9 Parent #2 ./. g.21971184T>G - CDKN2A_000012 - - - - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.174A>C, NM_001195132.1:c.174A>C, NM_058195.3:c.217A>C, NM_058197.4:c.*97A>C r.(=), r.(?) p.(=), p.(Ser73Arg)
9 Parent #2 ./. g.35076630T>G - FANCG_000013 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.925-50A>C r.(=) p.(=)
9 Parent #2 ./. g.98211549G>A - PTCH1_000052 - - - - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.3606C>T, NM_001083602.1:c.3408C>T, NM_001083603.1:c.3603C>T, NM_001083604.1:c.3153C>T, NM_001083605.1:c.3153C>T, NM_001083606.1:c.3153C>T, NM_001083607.1:c.3153C>T r.(=) p.(=)
9 Parent #2 ./. g.135787706G>A - TSC1_000031 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.876C>T, NM_001162426.1:c.876C>T, NM_001162427.1:c.723C>T r.(=) p.(=)
9 Parent #2 ./. g.135801064C>T - TSC1_000029 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.273G>A, NM_001162426.1:c.273G>A, NM_001162427.1:c.210+1524G>A r.(=) p.(=)
10 Parent #2 ./. g.107516311A>G - chr10_000020 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.61205157C>T - SDHAF2_000004 - - - - - - - Despoina Kalfakakou SDHAF2 - NM_017841.2:c.97C>T r.(?) p.(Arg33Cys)
11 Parent #2 ./. g.108100039G>A - ATM_000114 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.320G>A r.(?) p.(Cys107Tyr)
11 Parent #2 ./. g.108106399G>A - ATM_000111 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.334G>A r.(?) p.(Ala112Thr)
11 Parent #2 ./. g.108200946C>T - ATM_000102 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7313C>T r.(?) p.(Thr2438Ile)
13 Parent #2 ./. g.32900617C>T - BRCA2_000108 rs11571623 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.517-19C>T r.(=) p.(=)
13 Parent #2 ./. g.32953529A>T - BRCA2_000102 rs4987047 - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.8830A>T r.(?) p.(Ile2944Phe)
13 Parent #2 ./. g.48954178A>G - RB1_000034 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.1390-11A>G r.(=) p.(=)
14 Parent #2 ./. g.95582033T>A - DICER1_000035 - - - - - - - Despoina Kalfakakou DICER1 - NM_001195573.1:c.1878A>T, NM_001271282.1:c.1878A>T, NM_030621.3:c.1878A>T, NM_177438.2:c.1878A>T r.(=) p.(=)
16 Parent #2 ./. g.2137857C>T - TSC2_000127 rs45457095 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4990-7C>T, NM_001077183.1:c.4789-7C>T, NM_001114382.1:c.4921-7C>T r.(=) p.(=)
16 Parent #2 ./. g.2137899G>A - TSC2_000128 rs35118875 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.5025G>A, NM_001077183.1:c.4824G>A, NM_001114382.1:c.4956G>A r.(=) p.(=)
16 Parent #2 ./. g.3633105A>T - SLX4_000058 rs75182789 - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.5146T>A r.(?) p.(Ser1716Thr)
16 Parent #2 ./. g.3639301G>A - SLX4_000060 rs77718962 - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.4338C>T r.(=) p.(=)
16 Parent #2 ./. g.3644430G>T - SLX4_000062 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2160+24C>A r.(=) p.(=)
16 Parent #2 ./. g.3644431C>T - SLX4_000063 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2160+23G>A r.(=) p.(=)
16 Parent #2 ./. g.3646180C>T - SLX4_000064 rs1056085 - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1898G>A r.(?) p.(Gly633Asp)
17 Parent #2 ./. g.41245439T>C - BRCA1_000062 rs4986844 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.2109A>G, NM_007297.3:c.1968A>G, NM_007298.3:c.787+1322A>G, NM_007299.3:c.787+1322A>G, NM_007300.3:c.2109A>G r.(=) p.(=)
17 Parent #2 ./. g.41246783C>T - BRCA1_000064 rs62625299 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.765G>A, NM_007297.3:c.624G>A, NM_007298.3:c.765G>A, NM_007299.3:c.765G>A, NM_007300.3:c.765G>A r.(=) p.(=)
17 Parent #2 ./. g.59821974A>G - BRIP1_000034 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2098-22T>C r.(=) p.(=)
17 Parent #2 ./. g.59853967G>T - BRIP1_000032 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1936-44C>A r.(=) p.(=)
17 Parent #2 ./. g.59871140C>A - BRIP1_000033 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.1341-50G>T r.(=) p.(=)
17 Parent #2 ./. g.74469835G>A - RHBDF2_000030 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.1639-11C>T, NM_024599.5:c.1726-11C>T r.(=) p.(=)
17 Parent #2 ./. g.74473032G>A - RHBDF2_000026 - - - - - - - Despoina Kalfakakou RHBDF2 - NM_001005498.3:c.995C>T, NM_024599.5:c.1082C>T r.(?) p.(Ala332Val), p.(Ala361Val)
19 Parent #2 ./. g.45855014T>G - ERCC2_000039 rs55654097 - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.2191-35A>C r.(=) p.(=)
19 Parent #2 ./. g.51364633T>C - chr19_000009 - - - - - - - Despoina Kalfakakou - - - -
Legend