Individual #00021298

Reference -
Gender F
Geographic origin Kavala
Geographic origin Chios
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     
0000000642 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
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.47600965T>G - EPCAM_000019 - - - - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.203T>G r.(?) p.(Val68Gly)
2 Parent #2 ./. g.128047345C>T - ERCC3_000031 - - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.577G>A r.(?) p.(Val193Met)
7 Parent #2 ./. g.116339311A>G - MET_000029 - - - - - - - Despoina Kalfakakou MET - NM_000245.2:c.173A>G, NM_001127500.1:c.173A>G r.(?) p.(His58Arg)
9 Parent #2 ./. g.35079457C>T - FANCG_000014 - - - - - - - Despoina Kalfakakou FANCG - NM_004629.1:c.65G>A r.(?) p.(Arg22Gln)
16 Parent #2 ./. g.89883051G>A - FANCA_000087 - - - - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.-28C>T, NM_001018112.1:c.-28C>T r.(=) p.(=)
18 Parent #2 ./. g.43309888G>A - chr18_000005 - - - - - - - Despoina Kalfakakou - - - -
Legend