Individual #00021940

Reference -
Gender F
Geographic origin Dafnes,Aegion
Geographic origin Paraskevi, Aegion
Population Greek
Consanguinity no
Remarks -
Panel ID 00016570
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     
0000000274 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou



Variants

9 entries on 1 page. Showing entries 1 - 9.
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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.43553951C>A - chr2_000003 - - - - - - - Despoina Kalfakakou - - - -
2 Parent #2 ?/? g.233199492A>G - DIS3L2_000023 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-8563A>G, NM_152383.4:c.2394+47A>G r.(=) p.(=)
4 Parent #2 ./. g.100239284T>A - chr4_000002 rs6413413 - - - - - - Despoina Kalfakakou - - - -
5 Parent #2 ?/? g.176715770del - NSD1_000006 - - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.6152-50del, NM_172349.2:c.5345-50del r.(=) p.(=)
9 Parent #2 ?/? g.98011497G>A - FANCC_000007 rs1800361 - Germline - - - - Despoina Kalfakakou FANCC - NM_000136.2:c.77C>T, NM_001243743.1:c.77C>T, NM_001243744.1:c.77C>T r.(?) p.(Ser26Phe)
16 Parent #2 ?/? g.2103372C>T - TSC2_000039 rs45517098 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.255C>T, NM_001077183.1:c.255C>T, NM_001114382.1:c.255C>T r.(=) p.(=)
16 Parent #2 ?/? g.50809101G>A - CYLD_000010 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.914-989G>A, NM_001042412.1:c.914-989G>A, NM_015247.2:c.922+16G>A r.(=) p.(=)
16 Parent #2 ?/? g.68846165C>T - CDH1_000021 rs587782856 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.1136C>T r.(?) p.(Thr379Met)
17 Parent #2 -/- g.41249263G>A - BRCA1_000012 rs1799965 - Germline - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.591C>T, NM_007297.3:c.450C>T, NM_007298.3:c.591C>T, NM_007299.3:c.591C>T, NM_007300.3:c.591C>T r.(=) p.(=)
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