Not known Factual Statements About thr777

Not known Factual Statements About thr777

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ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively frequent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence alterations on RNA splicing advise this variant may perhaps produce or reinforce a splice web site. In summary, the readily available proof is at this time insufficient to determine the function of the variant in sickness. Hence, it's been categorized as being a Variant of Unsure Significance.

This sequence adjust affects codon 777 of your GAA mRNA. It is just a 'silent' modify, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be Section of the consensus splice web site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted during the literature in men and women afflicted with GAA-relevant conditions.

This date represents the final time this VCV record was updated. The update may very well be on account of an update to among the list of integrated submitted information (SCVs), or resulting from an update that ClinVar made towards the variant including including HGVS expressions or perhaps a rs quantity.

This column consists of more info supporting the classification, which include citations, the touch upon classification, and in-depth evidence provided as observations with the variant through the submitter.

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The combination germline classification for this variant, usually for any monogenic or Mendelian dysfunction as inside the ACMG/AMP pointers, or for response to the drug. This price is calculated by NCBI based on information from submitters. Go through our policies for calculating the mixture classification.

There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, you should look at distributing that data to ClinVar.

The number of variants in ClinVar which are contained inside this gene, with a link to watch the list of variants.

These citations are identified by LitVar utilizing the rs quantity, so They might contain citations for more than one variant at this site. Make sure you critique the LitVar final results diligently in your variant of desire. Record final up-to-date May perhaps 19, 2024 

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Stars represent the combination evaluation thr777 standing, or the extent of overview supporting the mixture germline classification for this VCV record.

The amount of variants in ClinVar for this gene, which include smaller variants in the gene and bigger CNVs that overlap or thoroughly comprise the gene.

The internet site is secure. The https:// assures that you will be connecting to the official Web page Which any data you supply is encrypted and transmitted securely.

Stars stand for the overview standing, or the level of evaluate supporting the submitted (SCV) file. This benefit is calculated by NCBI depending on data from the submitter.