thr777 Secrets

thr777 Secrets

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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 variations on RNA splicing recommend this variant might build or improve a splice website. In summary, the available evidence is now insufficient to find out the job of this variant in disease. For that reason, it has been categorised to be a Variant of Unsure Significance.

This sequence alter has an effect on codon 777 in the GAA mRNA. It is just a 'silent' change, which means that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice website for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in persons affected with GAA-connected disorders.

There is not any purposeful proof in ClinVar for this variation. Should you have created useful knowledge for this variation, make sure you contemplate submitting that information to ClinVar.

This column consists of more information supporting the classification, including citations, the touch upon classification, and comprehensive proof offered as observations of the variant via the submitter.

The issue for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of people observed using this type of variant.

The aggregate germline classification for this variant, usually for the monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Examine our procedures for calculating the combination classification.

There isn't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, remember to take into consideration publishing that information and facts to ClinVar.

The quantity of variants in ClinVar which are contained in thr777 just this gene, which has a backlink to perspective the list of variants.

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The amount of variants in ClinVar for this gene, which includes more compact variants inside the gene and larger CNVs that overlap or fully contain the gene.

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