All transcript variants in gene HSD17B4

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. - c.1369A>T pathogenic r.(?) p.(Asn457Tyr) g.118844871A>T - HSD17B4(NM_000414.3):c.1369A>T (p.N457Y) - HSD17B4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 16 c.1369A>T Pathogenic r.(?) p.(Asn457Tyr) g.118844871A>T - - - HSD17B4_000014 - MORL Deafness Variation Database, PubMed: van Grunsven 1999, PubMed: Ferdinandusse 2006, PubMed: Tsuchida 2012 - - SUMMARY record - - - 0 - LOVD-team, but with Curator vacancy
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