All transcript variants in gene HSD17B4

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 1 c.46G>A - r.(46g>a) p.(Gly16Ser) g.118788316G>A g.119452621G>A - - HSD17B4_000004 - PubMed: Demain 2016, Journal: Demain 2016 - rs137853096 Germline - - - 0 - Leigh Demain
+/. - c.46G>A pathogenic r.(?) p.(Gly16Ser) g.118788316G>A - HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.46G>A likely pathogenic r.(?) p.(Gly16Ser) g.118788316G>A - HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. - c.46G>A pathogenic r.(?) p.(Gly16Ser) g.118788316G>A - HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.46G>A likely pathogenic r.(?) p.(Gly16Ser) g.118788316G>A - HSD17B4(NM_000414.3):c.46G>A (p.G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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