Genomic variant #0000281423

Chromosome 5
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118850709G>A
DNA change (hg38) -
Published as HSD17B4(NM_001199291.2):c.1546G>A (p.A516T), HSD17B4(NM_001199291.3):c.1546G>A (p.A516T)
ISCN -
DB-ID HSD17B4_000016 See all 4 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) 0.00392 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HSD17B4 NM_000414.3 -?/. - c.1471G>A likely benign r.(?) p.(Ala491Thr)