Individual #00018934

Reference -
Gender F
Geographic origin Livadeia
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     
0000001283 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou



Variants

7 entries on 1 page. Showing entries 1 - 7.
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     
3 Parent #2 -?/-? g.52439216G>A - BAP1_000037 rs71651686 - Germline - - - - Despoina Kalfakakou BAP1 - NM_004656.3:c.1026C>T r.(=) p.(=)
10 Parent #2 ./. g.96058251T>C - chr10_000034 - - - - - - - Despoina Kalfakakou - - - -
12 Parent #2 -/- g.58143088C>T - CDK4_000009 rs2227953 - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.696G>A r.(=) p.(=)
12 Parent #2 -/- g.58144781T>C - CDK4_000010 rs2069501 - Germline - - - - Despoina Kalfakakou CDK4 - NM_000075.3:c.447A>G r.(=) p.(=)
16 Parent #2 ?/? g.14029047C>T - ERCC4_000042 - - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.1258C>T r.(=) p.(=)
17 Parent #2 ?/? g.33445643C>G - RAD51D_000016 - - Germline - - - - Despoina Kalfakakou RAD51D - NM_001142571.1:c.144+487G>C, NM_002878.3:c.145-5G>C, NM_133629.2:c.144+487G>C r.spl?, r.(=) p.?, p.(=)
X Parent #2 ?/? g.132888222A>C - GPC3_000008 - - Germline - - - - Despoina Kalfakakou GPC3 - NM_001164617.1:c.338-19T>G, NM_001164618.1:c.290-19T>G, NM_001164619.1:c.176-19T>G, NM_004484.3:c.338-19T>G r.(=) p.(=)
Legend