All variants in the HSD17B3 gene

Information The variants shown are described using the NM_001166120.1 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Variant remarks     

ClassClinical     

Owner     
./. 01 c.73G>A - p.Val25Met Substitution - GenBank HSD17B3_00041 T=0.005/2 Exon - Qi Ming
./. 01 c.91G>A - p.Val31Ile Substitution - GenBank HSD17B3_00040 T=0.019/24 Exon - Qi Ming
./. 01 c.133C>T - p.Arg45Trp Substitution - GenBank HSD17B3_00039 NA Exon - Qi Ming
./. 02 c.164G>A - p.Gly55Glu Substitution - GenBank HSD17B3_00038 NA Exon - Qi Ming
./. 02 c.166G>A - p.Ala56Thr Substitution - GenBank HSD17B3_00013 - Exon - Qi Ming
./. 03 c.221A>C - p.Asn74Thr Substitution - GenBank HSD17B3_00009 - Exon - Qi Ming
./. 03 c.239G>A - P.Arg80Gln Substitution - GenBank HSD17B3_00008 - Exon - Qi Ming
./. 03 c.239G>A - p.Arg80Gln Substitution - GenBank HSD17B3_00008 - Exon - Qi Ming
./. 04 c.278-1G>C - - Substitution - GenBank HSD17B3_00004 - Intron - Qi Ming
./. 03 c.277+4A>T - - Substitution - GenBank HSD17B3_00006 - Intron - Qi Ming
./. 04 c.304A>T - p.Ile102Phe Substitution - GenBank HSD17B3_00037 A=0.006/2 Exon - Qi Ming
./. 05 c.389A>G - p.Asn130Ser Substitution - GenBank HSD17B3_00010 - Exon - Qi Ming
./. 05 c.389A>G - p.Asn130Ser Substitution - GenBank HSD17B3_00010 - Exon - Qi Ming
./. 05 c.392A>G - p.Asn131Ser Substitution - GenBank HSD17B3_00036 NA Exon - Qi Ming
./. 06 c.472A>G - p.Ile158Val Substitution - GenBank HSD17B3_00035 C=0.003/1 Exon - Qi Ming
./. 08 c.527A>C - p.Gln176Pro Substitution - GenBank HSD17B3_00012 - Exon - Qi Ming
./. 08 c.563C>T - p.Ala188Val Substitution - GenBank HSD17B3_00011 - Exon - Qi Ming
./. 08 c.599C>T - p.Ala200Val Substitution - GenBank HSD17B3_00034 NA Exon - Qi Ming
./. 09 c.608C>T - p.Ala203Val Substitution - GenBank HSD17B3_00017 - Exon - Qi Ming
./. 09 c.619G>A - p.Ala207Thr Substitution - GenBank HSD17B3_00033 NA Exon - Qi Ming
./. 09 c.635T>A - p.Leu212Gln Substitution - GenBank HSD17B3_00025 NA Exon - Qi Ming
./. 10 c.695C>T - p.Ser232Leu Substitution - GenBank HSD17B3_00002 - Exon - Qi Ming
./. 10 c.695C>T - p.Ser232Leu Substitution - GenBank HSD17B3_00002 - Exon - Qi Ming
./. 10 c.703A>G - p.Met235Val Substitution - GenBank HSD17B3_00018 - Exon - Qi Ming
./. 10 c.721A>G - p.Thr241Ala Substitution - GenBank HSD17B3_00032 NA Exon - Qi Ming
./. 10 c.722C>G - p.Thr241Arg Substitution - GenBank HSD17B3_00031 NA Exon - Qi Ming
./. 10 c.733A>C - p.Thr245Pro Substitution - GenBank HSD17B3_00030 NA Exon - Qi Ming
./. 10 c.803G>A - p.Cys268Tyr Substitution - GenBank HSD17B3_00003 - Exon - Qi Ming
./. 11 c.845C>T - p.Pro282Leu Substitution - GenBank HSD17B3_00005 - Exon - Qi Ming
./. 11 c.845C>T - p.Pro282Leu Substitution - GenBank HSD17B3_00005 NA Exon - Qi Ming
./. 11 c.865G>A - p.Gly289Ser Substitution - GenBank HSD17B3_00023 - Exon - Qi Ming
./. 11 c.865G>A - p.Gly289Arg Substitution - GenBank HSD17B3_00023 T=0.122/153 Exon - Qi Ming
./. 11 c.866G>A - p.Gly289Asp Substitution - GenBank HSD17B3_00001 - Exon - Qi Ming
./. 11 c.922A>T - p.Lys308Ter Substitution - GenBank HSD17B3_00029 NA Exon - Qi Ming
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