Individual #00019843

Reference -
Gender M
Geographic origin Ilia
Geographic origin -
Population Greek
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     
0000012057 40y - - Left Side - - I - - Yes No No - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000504 DNA SEQ-NG-I 1 - 22 Despoina Kalfakakou



Variants

22 entries on 1 page. Showing entries 1 - 22.
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.45797228C>T - MUTYH_000007 rs36053993 - - - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.1145G>A, NM_001048172.1:c.1106G>A, NM_001048173.1:c.1103G>A, NM_001048174.1:c.1103G>A, NM_001128425.1:c.1187G>A, NM_012222.2:c.1178G>A r.(?) p.(Gly382Asp), p.(Gly369Asp), p.(Gly368Asp), p.(Gly396Asp), p.(Gly393Asp)
2 Parent #2 ./. g.29416833A>G - ALK_000029 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.4165-45T>C r.(=) p.(=)
2 Parent #2 ./. g.190719486T>C - PMS1_000021 - - - - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.1488T>C, NM_001128143.1:c.1371T>C, NM_001128144.1:c.1488T>C r.(=) p.(=)
3 Parent #2 ./. g.37045863C>A - MLH1_000021 - - - - - - - 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 - - - - - - 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.(=)
5 Parent #2 ./. g.88416401A>G - chr5_000017 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112176209C>T - APC_000038 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.4918C>T, NM_001127510.2:c.4918C>T, NM_001127511.2:c.4864C>T r.(?) p.(Arg1640Trp), p.(Arg1622Trp)
7 Parent #2 ./. g.148526908A>G - EZH2_000011 rs61732845 - - - - - - Despoina Kalfakakou EZH2 - NM_001203247.1:c.396T>C, NM_001203248.1:c.369T>C, NM_001203249.1:c.369T>C, NM_004456.4:c.396T>C, NM_152998.2:c.279T>C r.(=) p.(=)
9 Parent #2 ./. g.135804266G>A - TSC1_000005 rs62621221 - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.-7C>T, NM_001162426.1:c.-7C>T, NM_001162427.1:c.-7C>T r.(=) p.(=)
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
11 Parent #2 ./. g.32417962A>G - WT1_000001 rs5030274 - - - - - - Despoina Kalfakakou WT1 - NM_000378.4:c.1048-9T>C, NM_001198551.1:c.463-9T>C, NM_001198552.1:c.412-9T>C, NM_024424.3:c.1099-9T>C, NM_024426.4:c.1099-9T>C r.(=) p.(=)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.108122745C>G - ATM_000059 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.1789C>G r.(?) p.(Pro597Ala)
11 Parent #2 ./. g.108175463A>T - ATM_000015 rs1801673 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5558A>T r.(?) p.(Asp1853Val)
12 Parent #2 ./. g.121434317C>T - HNF1A_000001 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1108-27C>T r.(=) p.(=)
13 Parent #2 ./. g.49047451A>G - RB1_000006 rs4151610 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2490-45A>G r.(=) p.(=)
13 Parent #2 ./. g.49050826G>A - RB1_000001 rs4151624 - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2521-11G>A r.(=) p.(=)
13 Parent #2 ./. g.103498672C>T - ERCC5_000012 rs34291397 - - - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.56C>T r.(?) p.(Pro19Leu)
15 Parent #2 ./. g.89833552C>A - FANCI_000045 - - - - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1890+40C>A, NM_018193.2:c.1890+40C>A 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.23637756G>C - PALB2_000004 - - - - - - - Despoina Kalfakakou PALB2 - NM_024675.3:c.2587-38C>G r.(=) p.(=)
17 Parent #2 ./. g.29563077T>G - NF1_000026 rs9894862 - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.3974+38T>G, NM_001042492.2:c.3974+38T>G r.(=) p.(=)
Legend