Individual #00019368

Reference -
Gender M
Geographic origin Gargaliani, Messinia
Geographic origin Mandra, Attiki
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     
0000000676 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou



Variants

8 entries on 1 page. Showing entries 1 - 8.
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.29543699G>A - ALK_000018 rs56165377 - Germline - - - - Despoina Kalfakakou ALK - NM_004304.4:c.1464C>T r.(=) p.(=)
8 Parent #2 ?/? g.30969188C>T - WRN_000045 rs201990558 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.2146C>T r.(?) p.(Arg716Cys)
8 Parent #2 ?/? g.30999069G>C - WRN_000012 rs138492730 - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3091G>C r.(?) p.(Val1031Leu)
8 Parent #2 ?/? g.31004843C>T - WRN_000014 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.3460-37C>T r.(=) p.(=)
11 Parent #2 ?/? g.108216479A>C - ATM_000107 rs730881325 - Germline - - - - Despoina Kalfakakou ATM - NM_000051.3:c.8428A>C r.(?) p.(Lys2810Gln)
13 Parent #2 ?/? g.103504677T>G - ERCC5_000033 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.264+34T>G r.(=) p.(=)
16 Parent #2 -?/-? g.2111996C>T - TSC2_000117 rs374936223 - Germline - - - - Despoina Kalfakakou TSC2 - NM_000548.3:c.1244C>T, NM_001077183.1:c.1244C>T, NM_001114382.1:c.1244C>T r.(?) p.(Ala415Val)
17 Parent #2 -?/-? g.17119725G>A - FLCN_000001 rs41464156 - Germline - - - - Despoina Kalfakakou FLCN - NM_144606.5:c.*4968C>T, NM_144997.5:c.1269C>T r.(=) p.(=)
Legend