Variant #0000005890 (NC_000006.11:g.53135458C>A, ELOVL5(NM_021814.4):c.689G>T)

Individual ID 00005904
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.53135458C>A
Reference Borroni B et al. (2016)
DB-ID ELOVL5_000001 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELOVL5 NM_021814.4 ./. 7 c.689G>T r.(?) p.(Gly230Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005921 ? ? ELOVL5 1 XY Liu