Variant #0000249669 (NC_000005.9:g.118844871A>T, HSD17B4(NM_000414.3):c.1369A>T)

Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.118844871A>T
DNA change (hg38) g.119509176A>T
Published as HSD17B4(NM_000414.3):c.1369A>T (p.N457Y)
ISCN -
DB-ID HSD17B4_000014 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) 2.0E-5 View details
Owner VKGL-NL_Groningen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
HSD17B4 NM_000414.3 +/. - c.1369A>T r.(?) p.(Asn457Tyr)