Individual #00019925

Reference -
Gender M
Geographic origin Santorini
Geographic origin Scheveningen, Netherlands
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     
0000000569 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou



Variants

10 entries on 1 page. Showing entries 1 - 10.
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     
2 Parent #2 ./. g.47607081A>G - EPCAM_000002 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.831A>G r.(?) p.(Ile277Met)
2 Parent #2 ./. g.47690162G>T - MSH2_000002 - - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1387-8G>T, NM_001258281.1:c.1189-8G>T r.(=) p.(=)
2 Parent #2 ./. g.47698179A>G - MSH2_000003 rs61756467 - - - - - - Despoina Kalfakakou MSH2 - NM_000251.2:c.1737A>G, NM_001258281.1:c.1539A>G r.(=) p.(=)
2 Parent #2 ./. g.173311551T>C - chr2_000013 - - - - - - - Despoina Kalfakakou - - - -
3 Parent #2 ./. g.14219965_14219966insCCT - XPC_000030 - - - - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.103_103+1insAGG, NM_004628.4:c.103_103+1insAGG r.? p.?
5 Parent #2 ./. g.112178112C>T - APC_000043 rs34919187 - - - - - - Despoina Kalfakakou APC - NM_000038.5:c.6821C>T, NM_001127510.2:c.6821C>T, NM_001127511.2:c.6767C>T r.(?) p.(Ala2274Val), p.(Ala2256Val)
8 Parent #2 ./. g.145740622C>T - RECQL4_000022 rs34948955 - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1395G>A - p.?
11 Parent #2 ./. g.67257472C>A - AIP_000013 - - - - - - - Despoina Kalfakakou AIP - NM_003977.2:c.469-37C>A r.(=) p.(=)
13 Parent #2 ./. g.32893172T>C - BRCA2_000085 - - - - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.68-42T>C r.(=) p.(=)
17 Parent #2 ./. g.41243509T>C - BRCA1_000035 rs28897689 - - - - - - Despoina Kalfakakou BRCA1 - NM_007294.3:c.4039A>G, NM_007297.3:c.3898A>G, NM_007298.3:c.788-460A>G, NM_007299.3:c.788-460A>G, NM_007300.3:c.4039A>G r.(?), r.(=) p.(Arg1347Gly), p.(Arg1300Gly), p.(=)
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