lrg-sequence.org
FAQ | Locus Reference Genomic
http://www.lrg-sequence.org/faq
Skip to Main Content Area. Eg LRG 1, COL1A1, NM 000088.3. A LRG webinar is available on Youtube. This webinar provides you with an overview and demo of the Locus Reference Genomic (LRG). Resource - a manually curated reference resource for the reporting of clinically relevant variants. The webinar and its PowerPoint presentation are available on the LRG page of the EMBL-EBI Online training. LRG Frequently Asked Questions (FAQs). The most frequently asked FAQs. What is an LRG? Why do we need LRGs? I have ...
mseqdr.org
mvTool - Universal mtDNA Variant Converter and One Stop Annotation
https://mseqdr.org/mv.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. MvTool - Universal mtDNA Variant Converter and One Stop Annotation. Input mtDNA Variants Here. To check new variant entries, press "Convert" or "Annotate" button. We recommend running HGVS format check. If the result is not as expected. 1 HGVS Committee: m.8993T G. This is its recommended format and is widely used in literature. 6 Classical II: T8993G. The cu...
vwf.group.shef.ac.uk
VWFdb Submit Variant
http://vwf.group.shef.ac.uk/submit.html
Von Willebrand factor Variant Database (VWFdb). You are here: Home. The new variant registry requires users to register as submitters in order to submit new variant and patient data to VWFdb. Details on how to register as a submitter are given below. If you are already registered as a submitter log in to your account. Before entering a variant submitters are requested to ensure that the variant nomenclature. Is accurate using the Mutalyzer. Tool ( Wildeman et al. Data can only be added for one patient pe...
p53.iarc.fr
Mutation nomenclatures
http://p53.iarc.fr/HGVSstandards.aspx
The genomic reference sequence used for annotating TP53 mutations from R17 release is NC 000017.10 (hg19 build). To report mutations, please follow the recommendations provided by HGVS. You can also check Mutalyzer. A tool that help you to format your mutation data according to HGVS guidelines and to convert positions between different build and isoforms. Here is the basis of numbering:. G to C substitution of nt 303, i.e. nt 3 of the coding region (cDNA). Here are some examples:. C[76C T;83G C].
p53.iarc.fr
IARC TP53 Search
http://p53.iarc.fr/SelectedStatistics.aspx
Mutation conversion with: Mutalizer. Here are global statistics on the entire dataset of TP53 somatic mutations (includes mutations reported in primary tissue, body fluids and cell-lines). Prognostic value of somatic mutations. Statistics on dataset development. Here are global statistics on the entire dataset of TP53 germline mutations. Statistics on dataset development. Here are global statistics on cell-lines data (these data are also included in the somatic dataset).
mseqdr.org
MSeqDR.org Variant Mapping and Annotation
https://mseqdr.org/variant.php
A,rs113994099, 1:12031905.12081904, POLG, ENSG00000162572, MT-ND1, RCV000000015.1, Myopathy, MELAS. Single entry only! Variant: C" 1:g.10042757T C. One Stop Variant Mapping and Annotation. A nAARS2:c.1774C T n8:g.10480578C T nNM 178857.5:c.134G A nm.13513G A n19:g.54621653 54621662del"/. Check new variant entry. To check a new variant entry, press "Annotate" button. We recommend running HGVS format check. If the result is not as expected. MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA.
lovd.nl
Home - LOVD - An Open Source DNA variation database system
http://www.lovd.nl/3.0/home
LOVD v.3.0 - Leiden Open Variation Database. Online gene-centered collection and display of DNA variations. Public list of LOVD installations. Our list of Locus Specific Databases. For all details about LOVD, see our LOVD flyer. Last updated June 6th, 2013). Leiden Open Variation Database 3.0. If you are looking for a specific gene database. Please check the list of gene variant databases in our list of LSDBs. Or in the list of registered LOVD installations. And is actively being improved. Last modified ...
p53.iarc.fr
IARC TP53 Search
http://p53.iarc.fr/CellLines.aspx
Mutation conversion with: Mutalizer. Selected Statistics on Cell-Lines. For details on dataset contents and annotations, see the user manual. Please note that cell-line data are also included in the dataset od somatic mutations. Cell-Line Name and Tissue. ANUS[Carcinoma, NOS,Squamous cell carcinoma, NOS]. BONES (limbs)[Cancer, NOS,Chondroblastic osteosarcoma (C40. , C41. ),Chondrosarcoma, NOS (C40. , C41. ),Ewing sarcoma,Malignant fibrous histiocytoma,Neoplasm, benign,Osteosarcoma, NOS (C...CERVIX UTERI[...
