Individual #00019307

Reference -
Gender F
Geographic origin Kavala
Geographic origin Kilkis
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     
0000000383 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     
4 Parent #2 ?/? g.55593437G>A - KIT_000024 rs55792975 - Germline - - - - Despoina Kalfakakou KIT - NM_000222.2:c.1594G>A, NM_001093772.1:c.1582G>A r.(?) p.(Val532Ile), p.(Val528Ile)
6 Parent #2 ./. g.32433218A>C - chr6_000020 - - - - - - - Despoina Kalfakakou - - - -
8 Parent #2 -/- g.30916058A>G - WRN_000019 rs34477820 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.95A>G r.(?) p.(Lys32Arg)
11 Parent #2 ?/? g.108178576T>C - ATM_000067 rs368669649 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.5675-48T>C r.(=) p.(=)
13 Parent #2 -?/-? g.32972575G>A - BRCA2_000071 rs80359251 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9925G>A r.(?) p.(Glu3309Lys)
Legend