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     
-/. 19 c.1675A>G - r.(1675a>g) p.(Ile559Val) g.118861713A>G g.119526018A>G NM_001199291:c.1750A>G (Ile584Val) - HSD17B4_000008 - PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs11205 Germline - - - 0 - Johan den Dunnen
-/. - c.1675A>G benign r.(?) p.(Ile559Val) g.118861713A>G - HSD17B4(NM_001199291.2):c.1750A>G (p.I584V) - HSD17B4_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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