Full data view for gene ELOVL5

Information The variants shown are described using the NM_021814.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Ethnic origin     

Remarks     

Panel size     

Owner     
./. 7 c.689G>T r.(?) p.(Gly230Val) Unknown g.53135458C>A Di Gregorio E et al. (2014) ELOVL5_000001 - ? ? SCA Di Gregorio E et al. (2014) - - 1 XY Liu
./. 7 c.689G>T r.(?) p.(Gly230Val) Unknown g.53135458C>A Borroni B et al. (2016) ELOVL5_000001 - ? ? SCA Borroni B et al. (2016) - - 1 XY Liu
Legend   How to query