Individual #00020802

Reference -
Gender M
Geographic origin Prodromos, Cyprus
Geographic origin Nicosia
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases DuoCa
Owner name Despoina Kalfakakou


Phenotypes

Duodenal Cancer (DuoCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Grade     

Histology     

Stage     

Subtype     

Owner     
0000012597 62y - - - II - IV Tubular Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001493 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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.161326653C>T - SDHC_000006 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.242-5466C>T, NM_001035512.1:c.303+23C>T, NM_001035513.1:c.246+23C>T, NM_001278172.1:c.140-5466C>T, NM_003001.3:c.405+23C>T r.(=) p.(=)
3 Parent #2 ./. g.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
4 Parent #2 ./. g.55603038T>C - KIT_000052 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.2696+52T>C, NM_001093772.1:c.2684+52T>C r.(=) p.(=)
4 Parent #2 ./. g.106061574C>T - chr4_000020 - - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112176788_112176793del - APC_000093 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5497_5502del, NM_001127510.2:c.5497_5502del, NM_001127511.2:c.5443_5448del r.(?) p.(Val1834_Arg1835del), p.(Val1816_Arg1817del)
10 Parent #2 ./. g.43610100G>A - RET_000048 - - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2052G>A, NM_020975.4:c.2052G>A r.(=) p.(=)
11 Parent #2 ./. g.8252884G>C - chr11_000015 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.2098767C>T - TSC2_000132 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.138+13C>T, NM_001077183.1:c.138+13C>T, NM_001114382.1:c.138+13C>T r.(=) p.(=)
16 Parent #2 ./. g.89871703T>G - FANCA_000049 rs61757384 - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.694A>C, NM_001018112.1:c.694A>C r.(=) p.(=)
19 Parent #2 ./. g.33532309G>A - chr19_000007 rs76583569 - - - - - - Despoina Kalfakakou - - - -
Legend