Genomic variant #0000622422

Individual ID 00000001
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.53291191A>T
Reference -
DB-ID ELOVL5_000019
dbSNP ID rs13206121
Frequency 0.0838
Homozygous 5
Heterozygote 47
Average frequency (large NGS studies) Retrieve
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELOVL5 NM_021814.4 ./. - c.246+585T>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin