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

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0000012513 34y - - - - - - - Despoina Kalfakakou

Colon polyps (ColPol)   Add phenotype for this disease

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0000012512 25y - - - Adenomatous Despoina Kalfakakou

Meningioma (MNGM)   Add phenotype for this disease

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0000012514 46y Cerebellum - - - Despoina Kalfakakou

Neurofibromas (NF)   Add phenotype for this disease

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0000012516 - - - - - Despoina Kalfakakou

Hemangioma¬† (HMGM)   Add phenotype for this disease

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0000012515 - - - - - Despoina Kalfakakou



Screenings


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Owner     
0000001400 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou



Variants

13 entries on 1 page. Showing entries 1 - 13.
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Chr     

Allele     

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AscendingDNA change (genomic) (hg19)     

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Is Greek Founder     

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DNA change (cDNA)     

RNA change     

Protein     
1 Parent #2 ./. g.45797846G>A - MUTYH_000014 - - - - - - - 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 - - - - - - - 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.(=)
8 Parent #2 ./. g.31004843C>T - WRN_000014 - - - - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3460-37C>T r.(=) p.(=)
11 Parent #2 ./. g.108201108T>G - ATM_000003 rs56399857 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.7475T>G r.(?) p.(Leu2492Arg)
11 Parent #2 ./. g.111958677A>G - SDHD_000003 rs11214077 - - - - - - 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 - - - - - - - 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 - - - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1135C>T r.(?) p.(Pro379Ser)
17 Parent #2 ./. g.29528206A>G - NF1_000040 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1185+29A>G, NM_001042492.2:c.1185+29A>G, NM_001128147.2:c.1185+29A>G r.(=) p.(=)
17 Parent #2 ./. g.29541589A>G - NF1_000056 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1513A>G, NM_001042492.2:c.1513A>G, NM_001128147.2:c.1513A>G r.(?) p.(Lys505Glu)
17 Parent #2 ./. g.29585495A>G - NF1_000089 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4244A>G, NM_001042492.2:c.4307A>G r.(?) p.(Glu1415Gly), p.(Glu1436Gly)
17 Parent #2 ./. g.33430464A>G - RAD51D_000015 - - - - - - - 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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