f747cb35b9ea0e5a78aa07fbc87c81a79cb3bfaf max Mon Jan 3 05:29:27 2022 -0800 updating hgvs query example desc, refs #28588 diff --git src/hg/htdocs/goldenPath/help/query.html src/hg/htdocs/goldenPath/help/query.html index 7887cee..9654128 100755 --- src/hg/htdocs/goldenPath/help/query.html +++ src/hg/htdocs/goldenPath/help/query.html @@ -120,32 +120,32 @@ <tr> <td nowrap>RH18061;RH80175<br>15q11;15q13<br>NM_012090.5;NM_012421.4</td> <td nowrap>Displays the region between genome landmarks, such as the STS markers RH18061 and RH80175, or chromosome<br> bands 15q11 to 15q13, or SNPs NM_000310.4 and NM_012090.5. This syntax may also be used for other range queries,<br>such as between uniquely determined ESTs, mRNAs, refSeqs, SNPS, etc.</td></tr> <tr id="HGVS"> <td nowrap>NM_000310.4(PPT1):c.271_287del17insTT<br> NM_007262.5(PARK7):c.-24+75_-24+92dup<br> NM_006172.4(NPPA):c.456_*1delAA<br> MYH11:c.503-14_503-12del<br> NM_198576.4(AGRN):c.1057C>T<br> NM_198056.3:c.1654G>T<br> NP_002993.1:p.Asp92Glu<br> NP_002993.1:p.D92E<br> BRCA1 Ala744Cys<br> BRCA1 A744C<br> LRG_100t1:c.4G>A<br> LRG_100t1:n.1<br> LRG_456p1:p.Ser190Leu<br>LRG_321:g.16409_16461del<br>ENST00000002596.6:c.-108-6848A>G<br> ENSP00000005178.5:p.Val20Gly<br> chrX:g.31500000_31600000del<br> NR_111987:n.-1 <br> NM_015102.5:n.3038-2<br> NM_001372044:c.1528_1530del</td> - <td>Displays the region containing <a href="http://varnomen.hgvs.org/" target="_blank">HGVS</a> - term</td></tr> + <td>Displays the region that matches the <a href="http://varnomen.hgvs.org/" target="_blank">HGVS</a> + expression, usually in the format <tt><transcript or protein>:<position> <amino acid or nucleotide change></tt><br>If a gene symbol is used, HGVS search will try all RefSeq transcripts to find the nucleotide or amino acid at the position indicated in the expression. If there are multiple matches, a disambiguation page will be shown. If the RefSeq sequence differs from the genome sequence, then currently the search will use the genome, not the transcript, for codon counting and amino acid / nucleotide comparison. Please contact us if this is inconvenient.</td></tr> <!-- commented out -- not working <tr> <td>15q11;15q13</td> <td>bands 15q11 to 15q13, or SNPs rs1042522 and rs1800370. This syntax may also be used for other range queries</td></tr> <tr> <td>rs1042522;rs1800370</td> <td>such as between uniquely determined ESTs, mRNAs, refSeqs, etc.</td></tr> --> <tr> <td>essv8694097</td> <td>Displays the region containing Database of Genomic Variants (DGV)</td></tr> <tr> <td>nssv3446126</td> <td>Displays the region containing copy number variation from cases of developmental delay</td></tr>