Individual #00020169

Reference -
Gender F
Geographic origin Levidi, Arcadia
Geographic origin Prinos, Thasos
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     
0000001343 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     
2 Parent #2 ./. g.233194493G>A - DIS3L2_000075 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-13562G>A, NM_152383.4:c.1740-30G>A r.(=) p.(=)
3 Parent #2 ./. g.10094195T>A - FANCD2_000011 - - - - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
3 Parent #1 ./. g.37067094_37067102del - MLH1_000003 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-34_1039-26del, NM_001167617.1:c.745-34_745-26del, NM_001167618.1:c.316-34_316-26del, NM_001167619.1:c.316-34_316-26del, NM_001258271.1:c.1039-34_1039-26del, NM_001258273.1:c.316-34_316-26del, NM_001258274.1:c.316-34_316-26del r.(=) p.(=)
3 Parent #2 ./. g.37067095_37067102del - MLH1_000024 - - - - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.1039-33_1039-26del, NM_001167617.1:c.745-33_745-26del, NM_001167618.1:c.316-33_316-26del, NM_001167619.1:c.316-33_316-26del, NM_001258271.1:c.1039-33_1039-26del, NM_001258273.1:c.316-33_316-26del, NM_001258274.1:c.316-33_316-26del r.(=) p.(=)
7 Parent #2 ./. g.66458276G>A - SBDS_000021 - - - - - - - Despoina Kalfakakou SBDS - NM_016038.2:c.387C>T r.(=) p.(=)
9 Parent #2 ./. g.35074160C>T - FANCG_000028 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.1814G>A r.(?) p.(Arg605His)
13 Parent #2 ./. g.49039095del - RB1_000023 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39del r.(=) p.(=)
13 Parent #1 ./. g.49039095dup - RB1_000022 - - - - - - - Despoina Kalfakakou RB1 - NM_000321.2:c.2212-39dup r.(=) p.(=)
17 Parent #2 ./. g.29685474C>T - NF1_000034 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.7908-24C>T, NM_001042492.2:c.7971-24C>T r.(=) p.(=)
17 Parent #2 ./. g.59885956G>A - BRIP1_000014 rs28997569 - - - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.790C>T r.(?) p.(Arg264Trp)
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