Individual #00019374

Reference -
Gender F
Geographic origin Greece
Geographic origin South Africa
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     
0000000687 DNA SEQ-NG-I 1 - 5 Despoina Kalfakakou



Variants

5 entries on 1 page. Showing entries 1 - 5.
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.232879710T>G - DIS3L2_000053 - - Germline - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.52+21T>G, NM_001257282.1:c.52+21T>G, NM_152383.4:c.52+21T>G r.(=) p.(=)
3 Parent #2 ?/? g.14220114C>G - XPC_000035 - - Germline - - - - Despoina Kalfakakou XPC - NM_001145769.1:c.-46G>C, NM_004628.4:c.-46G>C r.(=) p.(=)
10 Parent #2 -?/-? g.89653834C>T - PTEN_000006 rs150651961 - Germline - - - - Despoina Kalfakakou PTEN - NM_000314.4:c.132C>T r.(=) p.(=)
16 Parent #2 -?/-? g.3651078C>T - SLX4_000055 rs200183071 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.1065G>A r.(=) p.(=)
16 Parent #2 -/- g.3658876G>A - SLX4_000010  rs118089506 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.90C>T r.(=) p.(=)
Legend