Individual #00020214

Reference -
Gender F
Geographic origin Asia Minor
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     
0000001452 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
3 Parent #2 ./. g.37067096_37067103del - MLH1_000058 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-32_1039-25del, NM_001167617.1:c.745-32_745-25del, NM_001167618.1:c.316-32_316-25del, NM_001167619.1:c.316-32_316-25del, NM_001258271.1:c.1039-32_1039-25del, NM_001258273.1:c.316-32_316-25del, NM_001258274.1:c.316-32_316-25del r.(=) p.(=)
3 Parent #2 ./. g.169082613A>G - chr3_000004 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ./. g.55210990C>G - EGFR_000013 - - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.241-8C>G, NM_201282.1:c.241-8C>G, NM_201283.1:c.241-8C>G, NM_201284.1:c.241-8C>G r.(=) p.(=)
9 Parent #2 ./. g.35076393G>A - FANCG_000030 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1076+36C>T r.(=) p.(=)
11 Parent #2 ./. g.22646984C>T - FANCF_000001 rs61752920 - - - - - - Despoina Kalfakakou FANCF - NM_022725.3:c.373G>A r.(?) p.(Asp125Asn)
12 Parent #2 ./. g.121426790G>A - HNF1A_000004 - - - - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.481G>A r.(?) p.(Ala161Thr)
14 Parent #2 ./. g.45668136C>T - FANCM_000095 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.6006C>T r.(=) p.(=)
15 Parent #2 ./. g.91347351A>G - BLM_000079 - - - - - - - Despoina Kalfakakou BLM - NM_000057.2:c.3559-46A>G r.(=) p.(=)
16 Parent #2 ./. g.2108866T>C - TSC2_000247 - - - - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.967T>C, NM_001077183.1:c.967T>C, NM_001114382.1:c.967T>C r.(?) p.(Phe323Leu)
18 Parent #2 ./. g.48591923T>C - SMAD4_000020 rs1801250 - - - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.1086T>C r.(=) p.(=)
Legend