BGI 5093 PDF

All alleles are reported in the Forward orientation. HGVS names are in the Aliases tab. Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. For more information see Help documentation.

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All alleles are reported in the Forward orientation. HGVS names are in the Aliases tab. Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors. For more information see Help documentation. The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted.

See here for details. The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible. Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele.

Click on the RCV accession i. More information is available on the project page including descriptions, data access, and terms of use. Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change.

The column "Note" can have two values: "diff" means that there is a difference between the reference allele variation interval at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence s of this variation in other HGVS names not labeled as "rev".

We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Other supporting variations are listed in the table without ss.

Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Current Build Released April 21, Genomic Placements. Sequence name Change GRCh Gene: TTN , titin minus strand. Help Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Allele: A allele ID: Help Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. Duzkale H et al. Richards S et al. Sequence View not displayed for indexing robots.

Genic Upstream Transcript Variant. Ashkenazi Jewish. Latin American 2. South Asian. Latin American 1. East Asian. GO Exome Sequencing Project. Genetic variation in the Estonian population. Korean Genome Project. A Vietnamese Genetic Variation Database. Northern Sweden. Medical Genome Project healthy controls from Spanish population. Spanish controls. A systematic approach to assessing the clinical significance of genetic variants.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

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