All transcript variants in gene HSD17B4

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

39 entries on 1 page. Showing entries 1 - 39.
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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
?/. - c.58+187A>G VUS r.(=) p.(=) g.118788515A>G - HSD17B4(NM_001199291.2):c.67A>G (p.R23G) - HSD17B4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.226G>T likely pathogenic r.(?) p.(Val76Leu) g.118810101G>T - HSD17B4(NM_000414.3):c.226G>T (p.Val76Leu) - HSD17B4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. 4 c.244G>T - r.(244g>u) p.(Val82Phe) g.118810119G>T g.119474424G>T - - HSD17B4_000003 - PubMed: Demain 2016, Journal: Demain 2016 - - Germline - - - 0 - Leigh Demain
-/. 6 c.317G>A - r.(?) p.(Arg106His) g.118811533G>A g.119475838G>A NM_001199291:c.392G>A (Arg131His) - HSD17B4_000007 - PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs25640 Germline - - - 0 - Johan den Dunnen
-/. - c.317G>A benign r.(?) p.(Arg106His) g.118811533G>A - HSD17B4(NM_001199291.2):c.392G>A (p.R131H) - HSD17B4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.317G>A benign r.(?) p.(Arg106His) g.118811533G>A - HSD17B4(NM_001199291.2):c.392G>A (p.R131H) - HSD17B4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.373C>T VUS r.(?) p.(Arg125Trp) g.118813135C>T - HSD17B4(NM_001199291.2):c.448C>T (p.R150W) - HSD17B4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.465A>G VUS r.(?) p.(Ile155Met) g.118814559A>G - HSD17B4(NM_001199291.2):c.540A>G (p.I180M) - HSD17B4_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.566G>C VUS r.(?) p.(Cys189Ser) g.118814660G>C - HSD17B4(NM_001199291.2):c.641G>C (p.C214S) - HSD17B4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.666C>G benign r.(?) p.(=) g.118824930C>G - HSD17B4(NM_001199291.2):c.741C>G (p.V247=) - HSD17B4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.742C>T VUS r.(?) p.(Arg248Cys) g.118829515C>T - HSD17B4(NM_000414.3):c.742C>T (p.(Arg248Cys), p.(Arg273Cys), p.(Arg230Cys)) - HSD17B4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.786C>T likely benign r.(?) p.(=) g.118829559C>T - HSD17B4(NM_001199291.2):c.861C>T (p.H287=) - HSD17B4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. 11 c.817C>T - r.(?) p.(Arg273Cys) g.118829515C>T - - - HSD17B4_000006 - - - - Germline - - - 0 - Claire Guissart
?/. 11 c.823A>T - r.(?) p.(Lys275*) g.118829596A>T g.119493901A>T - - HSD17B4_000001 - - - - Unknown - - - 0 - Gerard C.P. Schaafsma
?/. - c.956C>T VUS r.(?) p.(Thr319Ile) g.118832325C>T - HSD17B4(NM_001199291.2):c.1031C>T (p.T344I) - HSD17B4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1059G>A benign r.(?) p.(=) g.118835098G>A - HSD17B4(NM_001199291.2):c.1134G>A (p.A378=) - HSD17B4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1073C>T likely benign r.(?) p.(Pro358Leu) g.118835112C>T - HSD17B4(NM_000414.3):c.1073C>T (p.(Pro358Leu), p.(Pro383Leu), p.(Pro340Leu)) - HSD17B4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 13 c.1207G>A - r.? p.(Gly403Arg) g.118835171G>A - - - HSD17B4_000005 - - - - De novo - - - 0 - Claire Guissart
-?/. - c.1210-8T>C likely benign r.(=) p.(=) g.118837728T>C - HSD17B4(NM_001199291.1):c.1285-8T>C (p.(=)) - HSD17B4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1210-8T>C likely benign r.(=) p.(=) g.118837728T>C - HSD17B4(NM_001199291.1):c.1285-8T>C (p.(=)) - HSD17B4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.1317A>G VUS r.(?) p.(=) g.118842568A>G - HSD17B4(NM_001199291.2):c.1392A>G (p.V464=) - HSD17B4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - 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
-/. - c.1437+200G>A benign r.(=) p.(=) g.118845139G>A - HSD17B4(NM_001199291.2):c.1512+200G>A - HSD17B4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - 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
?/. - c.1574-6T>C VUS r.(=) p.(=) g.118861606T>C - HSD17B4(NM_000414.3):c.1574-6T>C (p.(=)) - HSD17B4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. 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
+?/. - c.1681G>C likely pathogenic r.(?) p.(Ala561Pro) g.118862828G>C - HSD17B4(NM_000414.3):c.1681G>C (p.(Ala561Pro)) - HSD17B4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1759C>G VUS r.(?) p.(Gln587Glu) g.118862906C>G - HSD17B4(NM_001199291.2):c.1834C>G (p.Q612E) - HSD17B4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1768-8C>T likely benign r.(=) p.(=) g.118865581C>T - HSD17B4(NM_000414.3):c.1768-8C>T (p.(=)) - HSD17B4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1769T>A likely benign r.(?) p.(Val590Asp) g.118865590T>A - HSD17B4(NM_000414.3):c.1769T>A (p.(Val590Asp), p.(Val615Asp), p.(Val572Asp)) - HSD17B4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.1811A>C VUS r.(?) p.(Asp604Ala) g.118865632A>C - HSD17B4(NM_001199291.2):c.1886A>C (p.D629A) - HSD17B4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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