Individual #00020165

Reference -
Gender F
Geographic origin Crete
Geographic origin -
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases -
Owner name Despoina Kalfakakou


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001331 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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     
3 Parent #2 -?/-? g.37048439C>G - MLH1_000091 rs368847278 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.381-43C>G, NM_001167617.1:c.87-43C>G, NM_001167618.1:c.-343-43C>G, NM_001167619.1:c.-251-43C>G, NM_001258271.1:c.381-43C>G, NM_001258273.1:c.-343-43C>G, NM_001258274.1:c.-343-43C>G r.(=) p.(=)
3 Parent #2 ./. g.169082678T>C - chr3_000002 - - - - - - - Despoina Kalfakakou - - - -
6 Parent #2 -/- g.35434083G>A - FANCE_000001 rs115195341 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1572G>A r.(=) p.(=)
7 Parent #2 ?/? g.116397710A>G - MET_000050 rs765244598 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.1984A>G, NM_001127500.1:c.1984A>G r.(?) p.(Ile662Val)
8 Parent #2 ?/? g.145738886G>A - RECQL4_000008 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2201-22C>T - p.?
12 Parent #2 ?/? g.121437215C>T - HNF1A_000008 rs201167179 - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.1623+23C>T r.(=) p.(=)
15 Parent #2 ?/? g.40505723T>C - BUB1B_000049 - - Germline - - - - Despoina Kalfakakou BUB1B - NM_001211.5:c.2678+48T>C r.(=) p.(=)
17 Parent #2 -?/-? g.33428223T>C - RAD51D_000017 rs370634278 - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.960A>G, NM_002878.3:c.900A>G, NM_133629.2:c.564A>G r.(=) p.(=)
17 Parent #2 -/- g.41246062G>A - BRCA1_000108 rs28897676 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.1486C>T, NM_007297.3:c.1345C>T, NM_007298.3:c.787+699C>T, NM_007299.3:c.787+699C>T, NM_007300.3:c.1486C>T r.(?), r.(=) p.(Arg496Cys), p.(Arg449Cys), p.(=)
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