Individual #00019485

Reference -
Gender F
Geographic origin Heraklion
Geographic origin Peloponnese
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases Healthy/Control
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001113 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou



Variants

12 entries on 1 page. Showing entries 1 - 12.
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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.29450448G>A - ALK_000069 - - - - - - - Despoina Kalfakakou ALK - NM_004304.4:c.2906C>T r.(?) p.(Ala969Val)
2 Parent #2 ./. g.47698108T>C - MSH2_000026 rs61756466 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1666T>C, NM_001258281.1:c.1468T>C r.(=) p.(=)
4 Parent #2 ./. g.55589799A>T - KIT_000044 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1281A>T, NM_001093772.1:c.1281A>T r.(?) p.(Gln427His)
5 Parent #2 ./. g.1286477G>T - chr5_000003 rs34363858 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ./. g.112102942C>G - APC_000080 - - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.277C>G, NM_001127510.2:c.277C>G, NM_001127511.2:c.307C>G r.(?) p.(Leu93Val), p.(Leu103Val)
6 Parent #2 ./. g.35430552C>T - FANCE_000033 - - - - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1384-14C>T r.(=) p.(=)
7 Parent #2 ./. g.55224427A>G - EGFR_000058 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1134-25A>G, NM_201282.1:c.1134-25A>G, NM_201283.1:c.1134-25A>G, NM_201284.1:c.1134-25A>G r.(=) p.(=)
9 Parent #2 ./. g.98231110G>A - PTCH1_000015 - - - - - - - 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)
11 Parent #2 ./. g.67250676G>A - AIP_000009 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.47G>A r.(?) p.(Arg16His)
11 Parent #2 ./. g.108128189T>C - ATM_000144 - - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.2251-19T>C r.(=) p.(=)
16 Parent #2 ./. g.3644605A>G - SLX4_000096 - - - - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.2014-5T>C r.spl? p.?
22 Parent #2 ./. g.30090765C>T - NF2_000029 - - - - - - - Despoina Kalfakakou NF2 - NM_000268.3:c.1762C>T, NM_016418.5:c.*34C>T, NM_181828.2:c.*34C>T, NM_181829.2:c.*34C>T, NM_181830.2:c.*34C>T, NM_181832.2:c.*49C>T, NM_181833.2:c.472C>T r.(?), r.(=) p.(Arg588*), p.(=), p.(Arg158*)
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