Individual #00020732

Reference -
Gender F
Geographic origin Piraeus
Geographic origin Larisa
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     
0000001348 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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     
6 Parent #2 ?/? g.35420544G>T - FANCE_000036 rs1015415361 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.222G>T r.(=) p.(=)
9 Parent #2 -/- g.21970974C>T - CDKN2A_000021 rs199901898 - Germline - - - - Despoina Kalfakakou CDKN2A - NM_000077.4:c.384G>A, NM_001195132.1:c.384G>A, NM_058195.3:c.*28G>A, NM_058197.4:c.*307G>A r.(=) p.(=)
11 Parent #2 ?/? g.108178576T>C - ATM_000067 rs368669649 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5675-48T>C r.(=) p.(=)
13 Parent #2 -/- g.32893207T>A - BRCA2_000028 rs81002830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-7T>A r.(=) p.(=)
15 Parent #2 -/- g.89828320C>A - FANCI_000032 rs28446881 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.1699-7C>A, NM_018193.2:c.1699-7C>A r.(=) p.(=)
15 Parent #2 ?/? g.89847054T>C - FANCI_000037 rs28517718 - Germline - - - - Despoina Kalfakakou FANCI - NM_001113378.1:c.3007-41T>C, NM_018193.2:c.2827-41T>C r.(=) p.(=)
15 Parent #2 ?/? g.91292689A>T - BLM_000055 rs140382474 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.191A>T r.(?) p.(Asp64Val)
15 Parent #2 -?/-? g.91358368G>A - BLM_000074 rs61754135 - Germline - - - - Despoina Kalfakakou BLM - NM_000057.2:c.4113G>A r.(=) p.(=)
16 Parent #2 ?/? g.2136701C>T - TSC2_000218 - - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.4850-32C>T, NM_001077183.1:c.4649-32C>T, NM_001114382.1:c.4781-32C>T r.(=) p.(=)
17 Parent #2 ?/? g.17125768_17125769del - FLCN_000003 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.779+46_779+47del, NM_144997.5:c.779+46_779+47del r.(=) p.(=)
17 Parent #2 ?/? g.17131439C>T - FLCN_000040 - - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.13G>A, NM_144997.5:c.13G>A r.(?) p.(Val5Met)
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