Individual #00019463

Reference -
Gender F
Geographic origin Heraklion
Geographic origin -
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     
0000000979 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.58468313A>G - FANCL_000012 - - - - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.96+40T>C, NM_018062.3:c.96+40T>C r.(=) p.(=)
2 Parent #2 ./. g.233199473G>A - DIS3L2_000004 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8582G>A, NM_152383.4:c.2394+28G>A r.(=) p.(=)
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.(=)
4 Parent #2 ./. g.55524168T>A - KIT_000001 - - - - - - - Despoina Kalfakakou KIT - NM_000222.2:c.-14T>A, NM_001093772.1:c.-14T>A r.(=) p.(=)
7 Parent #2 ./. g.116380867T>A - MET_000002 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-39T>A, NM_001127500.1:c.1528-39T>A r.(=) p.(=)
7 Parent #2 ./. g.116380868A>T - MET_000003 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.1528-38A>T, NM_001127500.1:c.1528-38A>T r.(=) p.(=)
9 Parent #2 ./. g.97897648A>G - FANCC_000023 - - - - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.823T>C, NM_001243743.1:c.823T>C, NM_001243744.1:c.823T>C r.(?) p.(Phe275Leu)
10 Parent #2 ./. g.72358722T>C - PRF1_000014 rs28933375 - - - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.755A>G, NM_005041.4:c.755A>G r.(?) p.(Asn252Ser)
17 Parent #2 ./. g.29653051C>T - NF1_000209 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.4986C>T, NM_001042492.2:c.5049C>T r.(=) p.(=)
22 Parent #2 ./. g.24158910C>T - SMARCB1_000012 - - - - - - - Despoina Kalfakakou SMARCB1 - NM_001007468.1:c.602-47C>T, NM_003073.3:c.629-47C>T r.(=) p.(=)
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