Little Known Facts About thr777.
Little Known Facts About thr777.
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The result in the variant on RNA or protein perform, depending on experimental proof from submitters.
This sequence improve affects codon 777 with the GAA mRNA. This is a 'silent' change, which means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related disorders.
This date represents the last time this VCV history was updated. The update could possibly be as a result of an update to among the list of included submitted information (SCVs), or because of an update that ClinVar created to your variant such as adding HGVS expressions or perhaps a rs amount.
The global small allele frequency calculated with the 1000 Genomes Venture. The minor allele at this locale is indicated in parentheses and should be diverse from your allele represented by this VCV report.
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The mixture germline classification for this variant, usually for the monogenic or Mendelian disorder as within the ACMG/AMP recommendations, or for reaction to your drug. This worth is calculated by NCBI depending on info from submitters. Read our policies for calculating the combination classification.
There isn't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, please take into account distributing that data to ClinVar.
The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.
These citations are discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this place. You should evaluation the LitVar effects cautiously in your variant of desire. Document previous current Might 19, 2024
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Stars symbolize the aggregate evaluate standing, or the extent of critique supporting the aggregate germline classification for this VCV record.
The site is safe. The https:// makes sure that you're connecting to your Formal Web site and that any facts you offer is encrypted and transmitted securely.
The location is protected. The https:// ensures you are connecting to your Formal website Which any information you provide is encrypted and transmitted securely.
Stars signify the evaluation position, or the thr777 extent of overview supporting the submitted (SCV) file. This value is calculated by NCBI according to information from the submitter.