Genomic variant #0000248799

Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118861713A>G
DNA change (hg38) -
Published as HSD17B4(NM_001199291.2):c.1750A>G (p.I584V)
ISCN -
DB-ID HSD17B4_000008 See all 2 reported entries
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.40441 View details
Owner VKGL-NL




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HSD17B4 NM_000414.3 -/. - c.1675A>G benign r.(?) p.(Ile559Val)