Individual #00020620

Reference -
Gender F
Geographic origin Arnissa, Edessa
Geographic origin Serres
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases ColPol, HMGM, MNGM, NF, TRC
Owner name Despoina Kalfakakou


Phenotypes

Thyroid Cancer (TRC)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012513 34y - - - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012512 25y - - Adenomatous Despoina Kalfakakou

Meningioma (MNGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012514 46y - - - Despoina Kalfakakou

Neurofibromas (NF)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012516 - - - - Despoina Kalfakakou

Hemangioma¬† (HMGM)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012515 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001400 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
1 Parent #2 -?/-? g.45797846G>A - MUTYH_000014 rs138089183 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.883C>T, NM_001048172.1:c.844C>T, NM_001048173.1:c.841C>T, NM_001048174.1:c.841C>T, NM_001128425.1:c.925C>T, NM_012222.2:c.916C>T r.(?) p.(Arg295Cys), p.(Arg282Cys), p.(Arg281Cys), p.(Arg309Cys), p.(Arg306Cys)
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.(=)
8 Parent #2 ?/? g.31004843C>T - WRN_000014 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3460-37C>T r.(=) p.(=)
11 Parent #2 ?/? g.108201108T>G - ATM_000003 rs56399857 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
11 Parent #2 ?/? g.111958677A>G - SDHD_000003 rs11214077 - Germline - - - - Despoina Kalfakakou SDHD - NM_001276503.1:c.149A>G, NM_001276504.1:c.53-914A>G, NM_001276506.1:c.149A>G, NM_003002.3:c.149A>G r.(?), r.(=) p.(His50Arg), p.(=)
16 Parent #2 ?/? g.2105571C>T - TSC2_000008 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.599+51C>T, NM_001077183.1:c.599+51C>T, NM_001114382.1:c.599+51C>T r.(=) p.(=)
16 Parent #2 -?/-? g.14028081C>T - ERCC4_000013 rs1799802 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1135C>T r.(?) p.(Pro379Ser)
17 Parent #2 -?/-? g.33430464A>G - RAD51D_000015  rs772193051 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.727+9T>C, NM_002878.3:c.667+9T>C, NM_133629.2:c.331+9T>C r.(=) p.(=)
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