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     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012890 7y - - Hyperplastic Despoina Kalfakakou

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012891 61y - - - Despoina Kalfakakou

Meningioma (MNGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012892 60y - - - Despoina Kalfakakou

Nodules (NDL)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012894 61y - - - Despoina Kalfakakou

Hemangioma¬† (HMGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012895 61y - - - Despoina Kalfakakou

Menetrier disease (MenDis)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012893 60y - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

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



Variants

17 entries on 1 page. Showing entries 1 - 17.
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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     
2 Parent #2 -?/-? g.47604154G>A - EPCAM_000024 rs146685071 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.493G>A r.(?) p.(Ala165Thr)
2 Parent #2 -/- g.232995439T>G - DIS3L2_000015 rs184764939 - Germline - - - - 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 rs139620056 - Germline - - - - 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 - Germline - - - - 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 - - Germline - - - - 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 rs145211300 - Germline - - - - 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 - Germline - - - - 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 - Germline - - - - 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 rs1554088345 - Germline - - - - 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 - Germline - - - - 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 rs915929375 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.1001T>C r.(?) p.(Leu334Ser)
16 Parent #2 ?/? g.14031664G>A - ERCC4_000039 rs760922582 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1853G>A r.(?) p.(Arg618His)
17 Parent #2 -?/-? g.7579642C>T - TP53_000011 - - Germline - - - - 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 - Germline - - - - 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 rs377767331 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.533C>G r.(?) p.(Ser178*)
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