Individual #00019389

Reference -
Gender F
Geographic origin Trikala
Geographic origin Lesvos
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     
0000000738 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou



Variants

11 entries on 1 page. Showing entries 1 - 11.
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.45799267C>T - MUTYH_000037 rs1060501331 - Germline - - - - Despoina Kalfakakou MUTYH - NM_001048171.1:c.158-34G>A, NM_001048172.1:c.116-31G>A, NM_001048173.1:c.116-34G>A, NM_001048174.1:c.116-34G>A, NM_001128425.1:c.166G>A, NM_012222.2:c.158-1G>A r.(=), r.(?), r.spl? p.(=), p.(Gly56Arg), p.?
2 Parent #2 ?/? g.58390064C>G - FANCL_000025 - - Germline - - - - Despoina Kalfakakou FANCL - NM_001114636.1:c.855G>C, NM_018062.3:c.840G>C r.(=) p.(=)
2 Parent #2 ?/? g.190718944T>C - PMS1_000034 - - Germline - - - - Despoina Kalfakakou PMS1 - NM_000534.4:c.967-21T>C, NM_001128143.1:c.850-21T>C, NM_001128144.1:c.967-21T>C r.(=) p.(=)
6 Parent #2 ./. g.475536T>C - chr6_000045 - - - - - - - Despoina Kalfakakou - - - -
10 Parent #2 -?/-? g.72360140C>T - PRF1_000005 rs112883709 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.519G>A, NM_005041.4:c.519G>A r.(=) p.(=)
10 Parent #2 -?/-? g.72360291C>T - PRF1_000006 rs139336186 - Germline - - - - Despoina Kalfakakou PRF1 - NM_001083116.1:c.368G>A, NM_005041.4:c.368G>A r.(?) p.(Arg123His)
11 Parent #2 ?/? g.44129588A>G - EXT2_000033 - - Germline - - - - Despoina Kalfakakou EXT2 - NM_000401.3:c.425A>G, NM_001178083.1:c.326A>G, NM_207122.1:c.326A>G r.(?) p.(Tyr142Cys), p.(Tyr109Cys)
16 Parent #2 -?/-? g.3640450G>A - SLX4_000015 rs200742809 - Germline - - - - Despoina Kalfakakou SLX4 - NM_032444.2:c.3189C>T r.(=) p.(=)
16 Parent #2 ?/? g.89845390G>A - FANCA_000096 rs529199293 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1737C>T r.(=) p.(=)
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.(=)
18 Parent #2 -?/-? g.48575160G>A - SMAD4_000013 rs145988618 - Germline - - - - Despoina Kalfakakou SMAD4 - NM_005359.5:c.354G>A r.(=) p.(=)
Legend