Individual #00020193

Reference -
Gender F
Geographic origin Amfilochia
Geographic origin Argolis
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     
0000001386 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     
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ./. g.233199140C>T - DIS3L2_000077 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8915C>T, NM_152383.4:c.2220C>T r.(=) p.(=)
3 Parent #2 ./. g.10091153C>T - FANCD2_000017 rs6785756 - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
14 Parent #2 ./. g.45624072C>G - FANCM_000088 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1309+47C>G r.(=) p.(=)
17 Parent #2 ./. g.33428320C>T - RAD51D_000019 - - - - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.863G>A, NM_002878.3:c.803G>A, NM_133629.2:c.467G>A r.(?) p.(Trp288*), p.(Trp268*), p.(Trp156*)
17 Parent #2 ./. g.56798128A>G - RAD51C_000010 rs28363317 - - - - - - Despoina Kalfakakou RAD51C - NM_058216.2:c.859A>G r.(?) p.(Thr287Ala)
17 Parent #2 ./. g.59821814T>C - BRIP1_000020 - - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.2236A>G r.(?) p.(Ile746Val)
Legend