Genomic variant #0000283432

Chromosome 5
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118788316G>A
DNA change (hg38) -
Published as HSD17B4(NM_000414.3):c.46G>A (p.G16S)
ISCN -
DB-ID HSD17B4_000004 See all 7 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) 0.00023 View details
Owner VKGL-NL_VUmc
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HSD17B4 NM_000414.3 +?/. - c.46G>A likely pathogenic r.(?) p.(Gly16Ser)