All transcript variants in gene HSD17B4

Information The variants shown are described using the NM_000414.3 transcript reference sequence.

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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 4 c.244G>T - r.(244g>u) p.(Val82Phe) g.118810119G>T g.119474424G>T - - HSD17B4_000003 - PubMed: Demain 2016, Journal: Demain 2016 - - Germline - - - 0 - Leigh Demain
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