thr777 Secrets
thr777 Secrets
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the influence of sequence modifications on RNA splicing recommend that this variant could generate or improve a splice web-site. In summary, the accessible evidence is currently inadequate to ascertain the purpose of this variant in sickness. Consequently, it has been categorized as a Variant of Uncertain Significance.
This sequence modify affects codon 777 of the GAA mRNA. It's really a 'silent' adjust, this means that it does not change the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Section of the consensus splice site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed within the literature in men and women influenced with GAA-relevant ailments.
This day represents the final time this VCV file was up to date. The update may be as a result of an update to among the list of involved submitted records (SCVs), or on account of an update that ClinVar built towards the variant for example incorporating HGVS expressions or simply a rs quantity.
This column incorporates more information supporting the classification, which includes citations, the touch upon classification, and in-depth evidence offered as observations on the variant because of the submitter.
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The combination germline classification for this variant, commonly for a monogenic or Mendelian dysfunction as from the ACMG/AMP suggestions, or for response to your drug. This price is calculated by NCBI based upon knowledge from submitters. Go through our regulations for calculating the mixture classification.
There are no citations for germline classification of thr777 the variant in ClinVar. If you already know of citations for this variation, you should take into consideration distributing that details to ClinVar.
The amount of variants in ClinVar which are contained within this gene, that has a url to check out the listing of variants.
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Aberrant 5' splice websites in human disorder genes: mutation sample, nucleotide structure and comparison of computational applications that forecast their utilization.
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The number of variants in ClinVar for this gene, including smaller variants within the gene and bigger CNVs that overlap or completely contain the gene.
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