The best Side of slot thr777
The best Side of slot thr777
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Stars represent the overview standing, or the extent of evaluation supporting the submitted (SCV) report. This value is calculated by NCBI determined by data through the submitter.
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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the outcome of sequence alterations on RNA splicing recommend this variant might build or reinforce a splice web page. In summary, the offered proof is now insufficient to find out the role of this variant in disorder. Consequently, it's been categorised as being a Variant of Uncertain Importance. Alright
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These citations are recognized by LitVar utilizing the rs quantity, so They could consist of citations for multiple variant at this place. Please overview the LitVar effects diligently for the variant of interest. File previous up to date Could 12, 2024
The submitting Business for this submitted (SCV) report. This column also includes the SCV accession and Variation quantity, the date this SCV 1st appeared in ClinVar, as well as day this SCV was very last up to date in ClinVar.
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The effect on the variant on RNA or protein function, determined by experimental proof from submitters.
The aggregate germline classification for this variant, commonly for any monogenic or Mendelian disorder as while in the ACMG/AMP pointers, or for response into a drug. This benefit is calculated by NCBI depending on details from submitters. Go through our procedures for calculating the aggregate classification.
This sequence improve has an effect on codon 777 of the GAA mRNA. It's a 'silent' modify, that means that it doesn't alter the encoded amino acid link thr777 sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which can be Portion of the consensus splice web site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed from the literature in persons impacted with GAA-associated conditions.
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