Genomic variant #0000394537

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.53338778A>G
Reference -
DB-ID ELOVL5_000014
dbSNP ID rs209512
Frequency 0.1191
Homozygous 8
Heterozygote 65
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.-9+10039T>C - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin