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     
-?/. - c.1471G>A likely benign r.(?) p.(Ala491Thr) g.118850709G>A - HSD17B4(NM_001199291.2):c.1546G>A (p.A516T) - HSD17B4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1471G>A VUS r.(?) p.(Ala491Thr) g.118850709G>A - HSD17B4(NM_001199291.2):c.1546G>A (p.A516T) - HSD17B4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1471G>A likely benign r.(?) p.(Ala491Thr) g.118850709G>A - HSD17B4(NM_001199291.2):c.1546G>A (p.A516T) - HSD17B4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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