Unique variants in gene HSD17B4

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

19 entries on 1 page. Showing entries 1 - 19.
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Effect     

Reported     

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     
+?/., +/. 4 1 c.46G>A likely pathogenic, pathogenic r.(?), r.(46g>a) p.(Gly16Ser) g.118788316G>A g.119452621G>A HSD17B4:c.46G>A (G16S) - HSD17B4_000004 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Demain 2016, Journal: Demain 2016 - rs137853096 CLASSIFICATION record, Germline - - - - - VKGL-NL_VUmc, Leigh Demain, VKGL-NL_Groningen, VKGL-NL_Rotterdam
+?/. 1 - c.226G>T likely pathogenic r.(?) p.(Val76Leu) g.118810101G>T - HSD17B4:NM_000414.3:c.226G>T (Val76Leu) - HSD17B4_000019 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 4 c.244G>T - r.(244g>u) p.(Val82Phe) g.118810119G>T g.119474424G>T - - HSD17B4_000003 - PubMed: Demain 2016, Journal: Demain 2016 - - Germline - - - - - Leigh Demain
-/. 3 6 c.317G>A benign r.(?) p.(Arg106His) g.118811533G>A g.119475838G>A HSD17B4:c.392G>A (R131H), HSD17B4:NM_001199291.2:c.392G>A (Arg131His), 1 more item - HSD17B4_000007 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs25640 CLASSIFICATION record, Germline - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, Johan den Dunnen
?/. 1 - c.373C>T VUS r.(?) p.(Arg125Trp) g.118813135C>T - HSD17B4:c.448C>T (R150W) - HSD17B4_000009 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.465A>G VUS r.(?) p.(Ile155Met) g.118814559A>G - HSD17B4:c.540A>G (I180M) - HSD17B4_000010 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.742C>T VUS r.(?) p.(Arg248Cys) g.118829515C>T - HSD17B4:NM_000414.3:c.742C>T, NM_001199291.1:c.817C>T, … - HSD17B4_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.786C>T likely benign r.(=) p.(=) g.118829559C>T - HSD17B4:c.861C>T (H287=) - HSD17B4_000011 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 11 c.817C>T - r.(?) p.(Arg273Cys) g.118829515C>T - - - HSD17B4_000006 - - - - Germline - - - - - Claire Guissart
?/. 1 11 c.823A>T - r.(?) p.(Lys275*) g.118829596A>T g.119493901A>T - - HSD17B4_000001 - - - - Unknown - - - - - Gerard C.P. Schaafsma
-/. 1 - c.1059G>A benign r.(=) p.(=) g.118835098G>A - HSD17B4:c.1134G>A (A378=) - HSD17B4_000012 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 13 c.1207G>A - r.? p.(Gly403Arg) g.118835171G>A - - - HSD17B4_000005 - - - - De novo - - - - - Claire Guissart
-?/. 2 - c.1210-8T>C likely benign r.(=) p.(=) g.118837728T>C - HSD17B4:c.1285-8T>C, HSD17B4:NM_001199291.1:c.1285-8T>C - HSD17B4_000013 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
+/. 1 - c.1369A>T pathogenic r.(?) p.(Asn457Tyr) g.118844871A>T - HSD17B4:c.1369A>T (N457Y) - HSD17B4_000014 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1437+200G>A benign r.(=) p.(=) g.118845139G>A - HSD17B4:c.1512+200G>A - HSD17B4_000015 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1471G>A likely benign r.(?) p.(Ala491Thr) g.118850709G>A - HSD17B4:c.1546G>A (A516T) - HSD17B4_000016 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.1574-6T>C VUS r.(=) p.(=) g.118861606T>C - HSD17B4:NM_000414.3:c.1574-6T>C, NM_001199291.1:c.1649-6T>C, …, 1 more item - HSD17B4_000017 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 19 c.1675A>G benign r.(1675a>g), r.(?) p.(Ile559Val) g.118861713A>G g.119526018A>G NM_001199291:c.1750A>G (Ile584Val), HSD17B4:c.1750A>G (I584V) - HSD17B4_000008 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Ahmed 2015, Journal: Ahmed 2015 - rs11205 Germline, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 - c.1759C>G VUS r.(?) p.(Gln587Glu) g.118862906C>G - HSD17B4:c.1834C>G (Q612E) - HSD17B4_000018 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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