Transcript #00024089

Transcript name transcript variant 2
Gene name HSD17B4 (hydroxysteroid (17-beta) dehydrogenase 4)
Chromosome 5
Transcript - NCBI ID NM_000414.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000405.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. - c.46G>A likely pathogenic r.(?) p.(Gly16Ser)
+/. 1 c.46G>A - r.(46g>a) p.(Gly16Ser)
+/. - c.46G>A pathogenic r.(?) p.(Gly16Ser)
+/. - c.46G>A pathogenic r.(?) p.(Gly16Ser)
+?/. - c.226G>T likely pathogenic r.(?) p.(Val76Leu)
+?/. 4 c.244G>T - r.(244g>u) p.(Val82Phe)
-/. - c.317G>A benign r.(?) p.(Arg106His)
-/. - c.317G>A benign r.(?) p.(Arg106His)
-/. 6 c.317G>A - r.(?) p.(Arg106His)
?/. - c.373C>T VUS r.(?) p.(Arg125Trp)
?/. - c.465A>G VUS r.(?) p.(Ile155Met)
?/. - c.742C>T VUS r.(?) p.(Arg248Cys)
-?/. - c.786C>T likely benign r.(=) p.(=)
+/. 11 c.817C>T - r.(?) p.(Arg273Cys)
?/. 11 c.823A>T - r.(?) p.(Lys275*)
-/. - c.1059G>A benign r.(=) p.(=)
+/. 13 c.1207G>A - r.? p.(Gly403Arg)
-?/. - c.1210-8T>C likely benign r.(=) p.(=)
-?/. - c.1210-8T>C likely benign r.(=) p.(=)
+/. - c.1369A>T pathogenic r.(?) p.(Asn457Tyr)
-/. - c.1437+200G>A benign r.(=) p.(=)
-?/. - c.1471G>A likely benign r.(?) p.(Ala491Thr)
?/. - c.1574-6T>C VUS r.(=) p.(=)
?/. - c.1574-6T>C VUS r.(=) p.(=)
-/. 19 c.1675A>G - r.(1675a>g) p.(Ile559Val)
-/. - c.1675A>G benign r.(?) p.(Ile559Val)
?/. - c.1759C>G VUS r.(?) p.(Gln587Glu)
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