Genomic variant #0000256012

Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.118814559A>G
DNA change (hg38) -
Published as HSD17B4(NM_001199291.2):c.540A>G (p.I180M)
ISCN -
DB-ID HSD17B4_000010
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) Variant not found in online data sets
Owner VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
HSD17B4 NM_000414.3 ?/. - c.465A>G VUS r.(?) p.(Ile155Met)