Individual #00019941

Reference -
Gender F
Geographic origin Chania, Crete
Geographic origin Karditsa
Population Greek
Consanguinity no
Remarks -
Panel size 5
Diseases Polyposis
Owner name Despoina Kalfakakou


Phenotypes

Polyposis (Polyposis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012159 18y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000596 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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     
3 Parent #1 ./. g.37067094_37067102del - MLH1_000003 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 ./. g.37067095_37067102del - MLH1_000024 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
5 Parent #2 ./. g.112173817_112173820del - APC_000047 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.2526_2529del, NM_001127510.2:c.2526_2529del, NM_001127511.2:c.2472_2475del r.(?) p.(Ser843Leufs*17), p.(Ser825Leufs*17)
7 Parent #2 ./. g.55259373G>A - EGFR_000021 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.2470-39G>A r.(=) p.(=)
7 Parent #2 ./. g.116422030C>G - MET_000001 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.3523-12C>G, NM_001127500.1:c.3577-12C>G r.(=) p.(=)
10 Parent #2 ./. g.43613908A>T - RET_000003 rs77724903 - - - - - - Despoina Kalfakakou RET - NM_020630.4:c.2372A>T, NM_020975.4:c.2372A>T r.(?) p.(Tyr791Phe)
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
16 Parent #2 ./. g.2108724C>T - TSC2_000009 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.849-24C>T, NM_001077183.1:c.849-24C>T, NM_001114382.1:c.849-24C>T r.(=) p.(=)
16 Parent #2 ./. g.2120559G>A - TSC2_000013 rs45517203 - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1819G>A, NM_001077183.1:c.1819G>A, NM_001114382.1:c.1819G>A r.(?) p.(Ala607Thr)
19 Parent #2 ./. g.45873748_45873749insC - ERCC2_000003 - - - - - - - Despoina Kalfakakou ERCC2 - NM_000400.3:c.5+45_5+46insG, NM_001130867.1:c.-326_-325insG r.(=) p.(=)
22 Parent #2 ./. g.30069392G>A - NF2_000018 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1257G>A, NM_016418.5:c.1257G>A, NM_181825.2:c.1257G>A, NM_181828.2:c.1131G>A, NM_181829.2:c.1134G>A, NM_181830.2:c.1008G>A, NM_181831.2:c.1008G>A, NM_181832.2:c.1257G>A, NM_181833.2:c.448-21349G>A r.(=) p.(=)
22 Parent #2 ./. g.30070950G>C - NF2_000017 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1446+20G>C, NM_016418.5:c.1446+20G>C, NM_181825.2:c.1446+20G>C, NM_181828.2:c.1320+20G>C, NM_181829.2:c.1323+20G>C, NM_181830.2:c.1197+20G>C, NM_181831.2:c.1197+20G>C, NM_181832.2:c.1446+20G>C, NM_181833.2:c.448-19791G>C r.(=) p.(=)
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