Individual #00019439

Reference -
Gender F
Geographic origin Trikala
Geographic origin -
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     
0000000856 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     
8 Parent #2 ?/? g.30948094_30948095del - WRN_000005 - - Germline - - - - Despoina Kalfakakou WRN - NM_000553.4:c.1720+46_1720+47del r.(=) p.(=)
8 Parent #2 -?/-? g.118825102G>A - EXT1_000014 rs371055794 - Germline - - - - Despoina Kalfakakou EXT1 - NM_000127.2:c.1722+9C>T r.(=) p.(=)
13 Parent #2 -?/-? g.32893271A>G - BRCA2_000087 rs4987046 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.125A>G r.(?) p.(Tyr42Cys)
16 Parent #2 -/- g.14026008T>C - ERCC4_000003 rs201181735 - Germline - - - - Despoina Kalfakakou ERCC4 - NM_005236.2:c.974-6T>C r.(=) p.(=)
16 Parent #2 ?/? g.89845232C>T - FANCA_000102 rs757053400 - Germline - - - - Despoina Kalfakakou FANCA - NM_000135.2:c.1803G>A r.(=) p.(=)
17 Parent #2 -?/-? g.29550550T>C - NF1_000203 rs142712751 - Germline - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.1810T>C, NM_001042492.2:c.1810T>C, NM_001128147.2:c.*1542T>C r.(=) p.(=)
Legend