Individual #00020954

Reference -
Gender F
Geographic origin Ano Diminio, Corinthia
Geographic origin Rizomylos, Aigio
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases HMGM, MenDis, MNGM, NDL, SIPol, TRC
Owner name Despoina Kalfakakou


Phenotypes

Small Intestine Polyps (SIPol)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000012890 7y - - - Hyperplastic Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

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Histology     

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Subtype     

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0000012891 61y - - - - Medullary - - Despoina Kalfakakou

Meningioma (MNGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

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Subtype     

Owner     
0000012892 60y - - - - Despoina Kalfakakou

Nodules (NDL)   Add phenotype for this disease

AscendingPhenotype ID     

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Owner     
0000012894 61y Liver Nodules - - - Despoina Kalfakakou

Hemangioma¬† (HMGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

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Subtype     

Owner     
0000012895 61y Liver - - - Despoina Kalfakakou

Menetrier disease (MenDis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Subcategory     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012893 60y - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

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Genes screened     

Variants found     

Owner     
0000001606 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou



Variants

17 entries on 1 page. Showing entries 1 - 17.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

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Is Greek Founder     

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Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 ./. g.47604154G>A - EPCAM_000024 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.493G>A r.(?) p.(Ala165Thr)
2 Parent #2 ./. g.232995439T>G - DIS3L2_000015 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.702+10T>G, NM_001257282.1:c.712T>G, NM_152383.4:c.702+10T>G r.(=), r.(?) p.(=), p.(Tyr238Asp)
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.(=)
4 Parent #2 ./. g.55573494C>A - KIT_000002 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1115+41C>A, NM_001093772.1:c.1115+41C>A r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112151320A>G - APC_000022 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.933+30A>G, NM_001127510.2:c.933+30A>G, NM_001127511.2:c.879+30A>G r.(=) p.(=)
5 Parent #2 ./. g.112175240G>C - APC_000031 rs1801166 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.3949G>C, NM_001127510.2:c.3949G>C, NM_001127511.2:c.3895G>C r.(?) p.(Glu1317Gln), p.(Glu1299Gln)
5 Parent #2 ./. g.112176556G>A - APC_000006 rs34506289 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.5265G>A, NM_001127510.2:c.5265G>A, NM_001127511.2:c.5211G>A r.(=) p.(=)
5 Parent #2 ./. g.112178337C>T - APC_000098 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.7046C>T, NM_001127510.2:c.7046C>T, NM_001127511.2:c.6992C>T r.(?) p.(Ser2349Leu), p.(Ser2331Leu)
7 Parent #2 ./. g.55238941G>A - EGFR_000004 rs17290246 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1919+35G>A, NM_201282.1:c.*2719G>A, NM_201284.1:c.*704G>A r.(=) p.(=)
10 Parent #2 ./. g.88679061T>C - BMPR1A_000036 - - - - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1001T>C r.(?) p.(Leu334Ser)
16 Parent #2 ./. g.14031664G>A - ERCC4_000039 - - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1853G>A r.(?) p.(Arg618His)
17 Parent #2 ./. g.7579642C>T - TP53_000011 - - - - - - - Despoina Kalfakakou TP53 - NM_000546.5:c.97-52G>A, NM_001126112.2:c.97-52G>A, NM_001126113.2:c.97-52G>A, NM_001126114.2:c.97-52G>A, NM_001126115.1:c.-1109G>A, NM_001126116.1:c.-1109G>A, NM_001126117.1:c.-1109G>A, NM_001126118.1:c.-21-52G>A, NM_001276695.1:c.-21-52G>A, NM_001276696.1:c.-21-52G>A, NM_001276697.1:c.-1190G>A, NM_001276698.1:c.-1190G>A, NM_001276699.1:c.-1190G>A, NM_001276760.1:c.-21-52G>A, NM_001276761.1:c.-21-52G>A r.(=) p.(=)
17 Parent #2 ./. g.41243680T>C - BRCA1_000106 rs80357254 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.3868A>G, NM_007297.3:c.3727A>G, NM_007298.3:c.788-631A>G, NM_007299.3:c.788-631A>G, NM_007300.3:c.3868A>G r.(?), r.(=) p.(Lys1290Glu), p.(Lys1243Glu), p.(=)
18 Parent #2 ./. g.46453484G>C - chr18_000003 - - - - - - - Despoina Kalfakakou - - - -
18 Parent #2 ./. g.48581229C>G - SMAD4_000031 - - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.533C>G r.(?) p.(Ser178*)
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