Individual #00020206

Reference -
Gender F
Geographic origin Stalos, 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     
0000001434 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
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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     
1 Parent #2 ?/? g.17354344T>C - SDHB_000022 rs774568101 - Germline - - - - Despoina Kalfakakou SDHB - NM_003000.2:c.440A>G r.(?) p.(Tyr147Cys)
2 Parent #2 -/- g.29543699G>A - ALK_000018 rs56165377 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1464C>T r.(=) p.(=)
2 Parent #2 -?/-? g.48010648T>G - MSH6_000065 rs1450747755 - Germline - - - - Despoina Kalfakakou MSH6 - NM_000179.2:c.260+16T>G, NM_001281492.1:c.237+39T>G, NM_001281493.1:c.-477+16T>G, NM_001281494.1:c.-1239T>G r.(=) p.(=)
2 Parent #2 ?/? g.128037999C>T - ERCC3_000016 rs4150457 - Germline - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.1527+24G>A r.(=) p.(=)
3 Parent #2 -/- g.10091153C>T - FANCD2_000017 rs6785756 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1509C>T, NM_033084.3:c.1509C>T r.(=) p.(=)
3 Parent #2 ?/? g.10094195T>A - FANCD2_000011 rs200473919 - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.1656+14T>A, NM_033084.3:c.1656+14T>A r.(=) p.(=)
6 Parent #2 ./. g.31620515G>C - chr6_000059 - - - - - - - Despoina Kalfakakou - - - -
7 Parent #2 ?/? g.55224427A>G - EGFR_000058 - - Germline - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.1134-25A>G, NM_201282.1:c.1134-25A>G, NM_201283.1:c.1134-25A>G, NM_201284.1:c.1134-25A>G r.(=) p.(=)
8 Parent #2 ./. g.71012788C>A - chr8_000010 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.69328765G>T - chr11_000006 - - - - - - - Despoina Kalfakakou - - - -
14 Parent #2 ?/? g.45623852A>G - FANCM_000062 rs374213749 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.1184-48A>G r.(=) p.(=)
14 Parent #2 ?/? g.45646004A>G - FANCM_000093 rs772889740 - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.4047A>G r.(=) p.(=)
16 Parent #2 -?/-? g.89815038G>A - FANCA_000026 rs1800348 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+29C>T r.(=) p.(=)
22 Parent #2 ?/? g.29083837T>A - CHEK2_000032 - - Germline - - - - Despoina Kalfakakou CHEK2 - NM_001005735.1:c.*48A>T, NM_001257387.1:c.*48A>T, NM_007194.3:c.*48A>T, NM_145862.2:c.*48A>T r.(=) p.(=)
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