Individual #00020223

Reference -
Gender F
Geographic origin Mytilene
Geographic origin Paros
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     
0000001481 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     
1 Parent #2 ./. g.161293488A>T - SDHC_000001 - - - - - - - Despoina Kalfakakou SDHC - NM_001035511.1:c.77+28A>T, NM_001035512.1:c.77+28A>T, NM_001035513.1:c.20+9273A>T, NM_001278172.1:c.77+28A>T, NM_003001.3:c.77+28A>T r.(=) p.(=)
7 Parent #2 ./. g.55269520A>G - EGFR_000009 rs41446045 - - - - - - Despoina Kalfakakou EGFR - NM_005228.3:c.3162+45A>G r.(=) p.(=)
8 Parent #2 ./. g.118842444C>T - EXT1_000017 - - - - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1284+25G>A r.(=) p.(=)
9 Parent #2 ./. g.135772857A>C - TSC1_000046 - - - - - - - Despoina Kalfakakou TSC1 - NM_000368.4:c.2766T>G, NM_001162426.1:c.2763T>G, NM_001162427.1:c.2613T>G r.(=) p.(=)
14 Parent #2 ./. g.45644349A>G - FANCM_000019 - - - - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.2392A>G r.(?) p.(Arg798Gly)
Legend