Genomic variant #0000047717

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.53284463C>T
Reference -
DB-ID ELOVL5_000011
dbSNP ID rs1346603
Frequency 0.3750
Homozygous 60
Heterozygote 135
Average frequency (large NGS studies) Variant not found in online data sets
Owner Admin




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ELOVL5 NM_021814.4 ./. - c.246+7313G>A - -



Screenings


Screening ID

Template

Technique

Genes screened

Variants found

Owner
0000000001 DNA arrayCNV - 904861 Admin