Full data view for gene ERCC4

Information The variants shown are described using the NM_005236.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Template     

Technique     

Type     

Disease     

Reference     

Gender     

Geographic origin     

Geographic origin     

Population     

Consanguinity     

Remarks     

Panel size     

Owner     
?/? - c.1853G>A r.(?) p.(Arg618His) Parent #2 g.14031664G>A - ERCC4_000039 rs760922582 - Germline - - - - DNA SEQ-NG-I 1 OVCA, TRC - F Kastellorizo Hydra Symi Northern Epirus Greek no - 1 Despoina Kalfakakou
?/? - c.1853G>A r.(?) p.(Arg618His) Parent #2 g.14031664G>A - ERCC4_000039 rs760922582 - Germline - - - - DNA SEQ-NG-I 1 ENC - F Marathea, Karditsa - Greek no - 1 Despoina Kalfakakou
?/? - c.1853G>A r.(?) p.(Arg618His) Parent #2 g.14031664G>A - ERCC4_000039 rs760922582 - Germline - - - - DNA SEQ-NG-I 1 HMGM, MenDis, MNGM, NDL, SIPol, TRC - F Ano Diminio, Corinthia Rizomylos, Aigio Greek no - 1 Despoina Kalfakakou
?/? - c.1853G>A r.(?) p.(Arg618His) Parent #2 g.14031664G>A - ERCC4_000039 rs760922582 - Germline - - - - DNA SEQ-NG-I 1 BrCa - F Asia Minor Chania Greek no - 1 Despoina Kalfakakou
?/? - c.1853G>A r.(?) p.(Arg618His) Parent #2 g.14031664G>A - ERCC4_000039 rs760922582 - Germline - - - - DNA SEQ-NG-I 1 OVCA - F Syros & Aigio Drama Greek no - 1 Despoina Kalfakakou
Legend