All transcript variants in gene HSD17B4

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
-/. 6 c.317G>A - r.(?) p.(Arg106His) g.118811533G>A g.119475838G>A NM_001199291:c.392G>A (Arg131His) - HSD17B4_000007 - PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs25640 Germline - - - 0 - Johan den Dunnen
-/. - c.317G>A benign r.(?) p.(Arg106His) g.118811533G>A - HSD17B4(NM_001199291.2):c.392G>A (p.R131H) - HSD17B4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.317G>A benign r.(?) p.(Arg106His) g.118811533G>A - HSD17B4(NM_001199291.2):c.392G>A (p.R131H) - HSD17B4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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