All variants in the HSD3B2 gene

Information The variants shown are described using the NM_000197.1 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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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     
./. 02 c.5G>T - p.Gly2Val Substitution - GenBank HSD3B2_00041 T=0.006/2 unknown - Qi Ming
./. 01 c.29C>A - p.Ala10Glu Substitution - GenBank HSD3B2_00002 - peripheral tissue - Qi Ming
./. 01 c.29C>A - p.Ala10Glu Substitution - GenBank HSD3B2_00002 - peripheral leukocytes - Qi Ming
./. 01 c.44G>A - p.Gly15Asp Substitution - GenBank HSD3B2_00003 - peripheral tissue - Qi Ming
./. 02 c.55G>A - p.Val19Ile Substitution - GenBank HSD3B2_00042 NA unknown - Qi Ming
./. 02 c.56T>C - p.Val19Ala Substitution - GenBank HSD3B2_00043 NA unknown - Qi Ming
./. 02 c.58C>T - p.Arg20Cys Substitution - GenBank HSD3B2_00044 NA unknown - Qi Ming
./. 02 c.122A>T - p.Glu41Val Substitution - GenBank HSD3B2_00045 NA unknown - Qi Ming
./. 02 c.132G>T - p.Glu44Asp Substitution - GenBank HSD3B2_00046 NA unknown - Qi Ming
./. 03 c.179G>A - p.Gly60Glu Substitution - GenBank HSD3B2_00047 NA unknown - Qi Ming
./. 04 c.186_187insC - p.Leu63ProfsX3 Substitution - GenBank HSD3B2_00003 - peripheral blood - Qi Ming
./. 03 c.202C>A - p.Leu68Met Substitution - GenBank HSD3B2_00048 NA unknown - Qi Ming
./. 03 c.220G>A - p.Asp74Asn Substitution - GenBank HSD3B2_00049 A=0.009/3 unknown - Qi Ming
./. 03 c.232G>A - p.Val78Ile Substitution - GenBank HSD3B2_00050 NA unknown - Qi Ming
./. 03 c.244G>A - p.Ala82Thr Substitution - GenBank HSD3B2_00002 - peripheral blood - Qi Ming
./. 03 c.244G>A - p.Ala82Thr Substitution - GenBank HSD3B2_00002 - peripheral tissue - Qi Ming
./. 03 c.244G>T - p.Ala82Ser Substitution - GenBank HSD3B2_00026 - unknown - Qi Ming
./. 03 c.280G>C - p.Glu94Gln Substitution - GenBank HSD3B2_00051 C=0.004/3 unknown - Qi Ming
./. 03 c.299A>G - p.Asn100Ser Substitution - GenBank HSD3B2_00015 - peripheral tissue - Qi Ming
./. 03 c.299A>G - p.(Asn100Ser) Substitution - GenBank HSD3B2_00015 - unknown - Qi Ming
./. 03 c.299A>G - p.Asn100Ser Substitution - GenBank HSD3B2_00015 - unknown - Qi Ming
./. 04 c.308-6G>A - - Substitution - GenBank HSD3B2_00037 - peripheral leukocytes - Qi Ming
./. 04 c.323T>G - p.Leu108Trp Substitution - GenBank HSD3B2_00004 - peripheral tissue - Qi Ming
./. 04 c.323T>G - p.Leu108Trp Substitution - GenBank HSD3B2_00004 - unknown - Qi Ming
./. 04 c.385G>A - p.Gly129Arg Substitution - GenBank HSD3B2_00036 - peripheral leukocytes - Qi Ming
./. 04 c.385G>C - p.Gly129Arg Substitution - GenBank HSD3B2_00018 - peripheral tissue - Qi Ming
./. 04 c.403G>T - p.Glu135X Substitution - GenBank HSD3B2_00027 - peripheral blood - Qi Ming
./. 04 c.419G>T - p.Gly140Val Substitution - GenBank HSD3B2_00052 NA unknown - Qi Ming
./. 04 c.424G>A - p.Glu142Lys Substitution - GenBank HSD3B2_00006 - peripheral blood - Qi Ming
./. 04 c.424G>A - p.Glu142Lys Substitution - GenBank HSD3B2_00006 - peripheral tissue - Qi Ming
./. 04 c.424G>A - p.Glu142Lys Substitution - GenBank HSD3B2_00006 - peripheral blood - Qi Ming
./. 04 c.464C>T - p.Pro155Leu Substitution - GenBank HSD3B2_00016 - peripheral tissue - Qi Ming
./. 04 c.491C>T - p.Ala164Val Substitution - GenBank HSD3B2_00053 NA unknown - Qi Ming
./. 04 c.500C>T - p.Ala167Val Substitution - GenBank HSD3B2_00022 - peripheral tissue - Qi Ming
./. 04 c.500C>T - p.Ala167Val Substitution - GenBank HSD3B2_00022 - blood - Qi Ming
./. 04 c.500C>T - p.Ala167Val Substitution - GenBank HSD3B2_00022 NA unknown - Qi Ming
./. 04 c.512G>A - p.Trp171fsX Substitution - GenBank HSD3B2_00007 - unknown - Qi Ming
./. 04 c.512G>A - p.Trp171X Substitution - GenBank HSD3B2_00007 - peripheral tissue - Qi Ming
./. 04 c.513G>A - p.Trp171X Substitution - GenBank HSD3B2_00005 - peripheral blood - Qi Ming
./. 04 c.518T>G - p.Leu173Arg Substitution - GenBank HSD3B2_00019 - peripheral tissue - Qi Ming
./. 04 c.518T>G - p.Leu173Arg Substitution - GenBank HSD3B2_00019 - Peripheral blood - Qi Ming
./. 04 c.557C>T - p.Pro186Leu Substitution - GenBank HSD3B2_00005 - peripheral tissue - Qi Ming
./. 04 c.557C>T - p.Pro186Leu Substitution - GenBank HSD3B2_00005 - unknown - Qi Ming
./. 04 c.558dup - p.Thr187HisfsX17 Duplication - GenBank HSD3B2_00010 - peripheral tissue - Qi Ming
./. 04 c.614T>C - p.Leu205Pro Substitution - GenBank HSD3B2_00008 - blood - Qi Ming
./. 04 c.614T>C - p.Leu205Pro Substitution - GenBank HSD3B2_00008 - peripheral tissue - Qi Ming
./. 04 c.637A>G - p.Ser213Gly Substitution - GenBank HSD3B2_00023 - peripheral tissue - Qi Ming
./. 04 c.638G>C - p.Ser213Thr Substitution - GenBank HSD3B2_00032 - peripheral lymphocytes - Qi Ming
./. 04 c.638G>C - p.Ser213Thr Substitution - GenBank HSD3B2_00032 NA unknown - Qi Ming
./. 04 c.646A>G - p.Lys216Glu Substitution - GenBank HSD3B2_00024 - peripheral tissue - Qi Ming
./. 04 c.664C>A - p.Pro222Thr Substitution - GenBank HSD3B2_00031 - peripheral blood - Qi Ming
./. 04 c.665C>A - p.Pro222Gln Substitution - GenBank HSD3B2_00009 - peripheral tissue - Qi Ming
./. 04 c.665C>A - p.Pro222Gln Substitution - GenBank HSD3B2_00009 - blood leukocytes - Qi Ming
./. 04 c.671A>G - p.Tyr224Cys Substitution - GenBank HSD3B2_00054 NA unknown - Qi Ming
./. 04 c.687_713del - p.Trp230_Ala238del Deletion - GenBank HSD3B2_00014 - peripheral tissue - Qi Ming
./. 04 c.707T>C - p.Leu236Ser Substitution - GenBank HSD3B2_00008 - peripheral tissue - Qi Ming
./. 04 c.707T>C - p.Leu236Ser Substitution - GenBank HSD3B2_00008 - blood - Qi Ming
./. 04 c.707T>C - p.Leu236Ser Substitution - GenBank HSD3B2_00008 C=0.014/13 unknown - Qi Ming
./. 04 c.733G>C - p.Ala245Pro Substitution - GenBank HSD3B2_00020 - peripheral tissue - Qi Ming
./. 04 c.745C>T - p.Arg249fsX Substitution - GenBank HSD3B2_00010 - white blood cells - Qi Ming
./. 04 c.757T>A - p.Tyr253Asn Substitution - GenBank HSD3B2_00004 - peripheral blood - Qi Ming
./. 04 c.757T>A - p.Tyr253Asn Substitution - GenBank HSD3B2_00004 - peripheral tissue - Qi Ming
./. 04 c.760T>G - p.Tyr254Asp Substitution - GenBank HSD3B2_00001 - peripheral blood - Qi Ming
./. 04 c.760T>G - p.Tyr254Asp Substitution - GenBank HSD3B2_00001 - peripheral tissue - Qi Ming
./. 04 c.776C>G - p.Thr259Arg Substitution - GenBank HSD3B2_00012 - white blood cells - Qi Ming
./. 04 c.776C>G - p.Thr259Arg Substitution - GenBank HSD3B2_00012 - peripheral tissue - Qi Ming
./. 04 c.776C>T - p.Thr259Met Substitution - GenBank HSD3B2_00011 - peripheral tissue - Qi Ming
./. 04 c.797A>C - p.Asn266Thr Substitution - GenBank HSD3B2_00025 - unknown - Qi Ming
./. 04 c.809T>C - p.Ile270Thr Substitution - GenBank HSD3B2_00055 NA unknown - Qi Ming
./. 04 c.818_819del - p.Lys273ArgfsX7 Deletion - GenBank HSD3B2_00040 - peripheral blood - Qi Ming
./. 04 c.818_819delAA - p.Lys273ArgfsX6 Deletion - GenBank HSD3B2_00038 - unknown - Qi Ming
./. 04 c.850A>C - p.Ser284Arg Substitution - GenBank HSD3B2_00033 - peripheral lymphocytes - Qi Ming
./. 04 c.852C>A - p.Ser284Arg Substitution - GenBank HSD3B2_00056 NA unknown - Qi Ming
./. 04 c.867del - p.Met290CysfsX10 Deletion - GenBank HSD3B2_00012 - peripheral tissue - Qi Ming
./. 04 c.881G>T - p.Gly294Val Substitution - GenBank HSD3B2_00017 - peripheral tissue - Qi Ming
./. 04 c.924C>G - p.Tyr308fsX Substitution - GenBank HSD3B2_00011 - white blood cells - Qi Ming
./. 04 c.946C>T - p.Arg316Cys Substitution - GenBank HSD3B2_00057 NA unknown - Qi Ming
./. 04 c.953delC - p.Thr318LysfsX50 Deletion - GenBank HSD3B2_00013 - peripheral blood - Qi Ming
./. 04 c.1003C>T - p.Arg335X Substitution - GenBank HSD3B2_00033 - peripheral blood - Qi Ming
./. 04 c.1003C>T - p.Arg335Ter Substitution - GenBank HSD3B2_00033 NA unknown - Qi Ming
./. 04 c.1012G>A - p.Ala338Thr Substitution - GenBank HSD3B2_00058 NA unknown - Qi Ming
./. 04 c.1022C>T - p.Pro341Leu Substitution - GenBank HSD3B2_00034 - peripheral blood - Qi Ming
./. 04 c.*96C>G - - Substitution - GenBank HSD3B2_00028 - blood - Qi Ming
./. 04 c.1057G>A - p.Val353Met Substitution - GenBank HSD3B2_00059 NA unknown - Qi Ming
./. 04 c.1064G>A - p.Trp355X Substitution - GenBank HSD3B2_00035 - peripheral blood - Qi Ming
./. 04 c.1097C>A - p.Thr366Asn Substitution - GenBank HSD3B2_00060 NA unknown - Qi Ming
./. 04 c.1119A>C - p.X373CysextX95 Substitution - GenBank HSD3B2_00030 - peripheral blood - Qi Ming
./. 04 c.*202A>G - - Substitution - GenBank HSD3B2_00029 - blood - Qi Ming
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