Individual #00019879

Reference -
Gender M
Geographic origin Athens
Geographic origin Alexandria, Imathia
Population Greek
Consanguinity no
Remarks -
Panel size 6
Diseases ColPol
Owner name Despoina Kalfakakou


Phenotypes

Colon polyps (ColPol)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Subtype     

Owner     
0000012091 - - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000535 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou



Variants

16 entries on 1 page. Showing entries 1 - 16.
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     
2 Parent #2 +/+ g.48027775A>T - MSH6_000033 rs587782593 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.2653A>T, NM_001281492.1:c.2263A>T, NM_001281493.1:c.1747A>T, NM_001281494.1:c.1747A>T r.(?) p.(Lys885*), p.(Lys755*), p.(Lys583*)
2 Parent #2 ?/? g.232894834T>C - DIS3L2_000040 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.366+44T>C, NM_001257282.1:c.366+44T>C, NM_152383.4:c.366+44T>C r.(=) p.(=)
3 Parent #2 -/- g.14197840G>A - XPC_000023 rs2228004 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.1917C>T, NM_004628.4:c.2028C>T r.(=) p.(=)
3 Parent #2 -/- g.14200382G>T - XPC_000028 rs74737358 - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.890C>A, NM_004628.4:c.1001C>A r.(?) p.(Pro297His), p.(Pro334His)
3 Parent #2 ?/? g.14211904C>T - XPC_000018 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.405+41G>A, NM_004628.4:c.412+34G>A r.(=) p.(=)
7 Parent #2 -/- g.55224338G>A - EGFR_000036 rs2302536 - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1119G>A, NM_201282.1:c.1119G>A, NM_201283.1:c.1119G>A, NM_201284.1:c.1119G>A r.(=) p.(=)
8 Parent #2 ?/? g.30946355A>G - WRN_000055 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1577-51A>G r.(=) p.(=)
9 Parent #2 -?/-? g.98209214G>A - PTCH1_000018 rs143464326 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.4324C>T, NM_001083602.1:c.4126C>T, NM_001083603.1:c.4321C>T, NM_001083604.1:c.3871C>T, NM_001083605.1:c.3871C>T, NM_001083606.1:c.3871C>T, NM_001083607.1:c.3871C>T r.(?) p.(Arg1442Trp), p.(Arg1376Trp), p.(Arg1441Trp), p.(Arg1291Trp)
9 Parent #2 -?/-? g.98231110G>A - PTCH1_000015 rs149258400 - Germline - - - - Despoina Kalfakakou PTCH1 - NM_000264.3:c.2173C>T, NM_001083602.1:c.1975C>T, NM_001083603.1:c.2170C>T, NM_001083604.1:c.1720C>T, NM_001083605.1:c.1720C>T, NM_001083606.1:c.1720C>T, NM_001083607.1:c.1720C>T r.(?) p.(Pro725Ser), p.(Pro659Ser), p.(Pro724Ser), p.(Pro574Ser)
13 Parent #2 -?/-? g.32893271A>G - BRCA2_000087 rs4987046 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.125A>G r.(?) p.(Tyr42Cys)
13 Parent #2 -/- g.32972760G>A - BRCA2_000097 rs28897762 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.10110G>A r.(=) p.(=)
16 Parent #2 ?/? g.89882407G>A - FANCA_000011 rs189841793 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.80-13C>T, NM_001018112.1:c.80-13C>T r.(=) p.(=)
17 Parent #2 -?/-? g.17119838C>T - FLCN_000011 rs150687840 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4855G>A, NM_144997.5:c.1177-21G>A r.(=) p.(=)
17 Parent #2 ?/? g.33428327G>A Konstanta et al (2018) RAD51D_000001 rs587781813 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.856C>T, NM_002878.3:c.796C>T, NM_133629.2:c.460C>T r.(?) p.(Arg286Cys), p.(Arg266Cys), p.(Arg154Cys)
17 Both (homozygous) -/- g.41223119T>C - BRCA1_000007 rs28897693 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4812A>G, NM_007297.3:c.4671A>G, NM_007298.3:c.1500A>G, NM_007299.3:c.1500A>G, NM_007300.3:c.4875A>G r.(=) p.(=)
17 Parent #2 ./. g.58740529C>T - chr17_000001 - - - - - - - Despoina Kalfakakou PPM1D - NM_003620.3:c.1434C>T r.(=) p.(=)
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