Individual #00020724

Reference -
Gender F
Geographic origin -
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     
0000001393 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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     
2 Parent #2 ?/? g.58425818T>C - FANCL_000031 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.472-21A>G, NM_018062.3:c.472-21A>G r.(=) p.(=)
3 Parent #2 ?/? g.10127653A>G - FANCD2_000034 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.3335+47A>G, NM_033084.3:c.3335+47A>G r.(=) p.(=)
6 Parent #2 -?/-? g.35434010C>T - FANCE_000005 rs189384185 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.1510-11C>T r.(=) p.(=)
8 Parent #2 -/- g.30938513A>G - WRN_000018 rs1800390 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.970A>G r.(?) p.(Thr324Ala)
8 Parent #2 ?/? g.145737652A>G - RECQL4_000157 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3112T>C - p.?
8 Parent #2 ?/? g.145738571del - RECQL4_000158 - - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.2464+30del - p.?
13 Parent #2 -/- g.103524647C>G - ERCC5_000053 rs9518857 - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.2778C>G r.(=) p.(=)
16 Parent #2 -?/-? g.2108724C>T - TSC2_000009 rs373618207 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.849-24C>T, NM_001077183.1:c.849-24C>T, NM_001114382.1:c.849-24C>T r.(=) p.(=)
16 Parent #2 -?/-? g.2120559G>A - TSC2_000013 rs45517203 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1819G>A, NM_001077183.1:c.1819G>A, NM_001114382.1:c.1819G>A r.(?) p.(Ala607Thr)
16 Parent #2 -?/-? g.14022038G>A - ERCC4_000010 rs146650135 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.738G>A r.(=) p.(=)
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