Individual #00019271

Reference -
Gender F
Geographic origin Corfu
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     
0000000238 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     
3 Parent #2 -/- g.37055947G>A - MLH1_000033 rs35908749 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.702G>A, NM_001167617.1:c.408G>A, NM_001167618.1:c.-22G>A, NM_001167619.1:c.-22G>A, NM_001258271.1:c.702G>A, NM_001258273.1:c.-22G>A, NM_001258274.1:c.-22G>A r.(=) p.(=)
5 Parent #2 -/- g.112173250G>A - APC_000010 rs72541809 - Germline - - - - Despoina Kalfakakou APC - NM_000038.5:c.1959G>A, NM_001127510.2:c.1959G>A, NM_001127511.2:c.1905G>A r.(=) p.(=)
5 Parent #2 ?/? g.176722091G>A - NSD1_000013 rs183751052 - Germline - - - - Despoina Kalfakakou NSD1 - NM_022455.4:c.7722G>A, NM_172349.2:c.6915G>A r.(=) p.(=)
6 Parent #2 ?/? g.35424008_35424010del - FANCE_000008 rs45451605 - Germline - - - - Despoina Kalfakakou FANCE - NM_021922.2:c.733_735del r.(?) p.(Gly246del)
8 Parent #2 ?/? g.30942799T>C - WRN_000027 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1431+37T>C r.(=) p.(=)
10 Parent #2 -?/-? g.88659659G>A - BMPR1A_000011 rs201530603 - Germline - - - - Despoina Kalfakakou BMPR1A - NM_004329.2:c.430+12G>A r.(=) p.(=)
11 Parent #2 -?/-? g.108150352T>C - ATM_000051 rs3092825 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3402+17T>C r.(=) p.(=)
16 Parent #2 -?/-? g.68862204C>T - CDH1_000002 rs61747636 - Germline - - - - Despoina Kalfakakou CDH1 - NM_004360.3:c.2292C>T r.(=) p.(=)
16 Parent #2 -?/-? g.89815060C>A - FANCA_000038 rs185527578 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.3348+7G>T r.(=) p.(=)
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