The Fact About thr777 That No One Is Suggesting

The Fact About thr777 That No One Is Suggesting

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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the outcome of sequence modifications on RNA splicing suggest this variant may possibly produce or strengthen a splice web-site. In summary, the available proof is at this time inadequate to find out the position of this variant in condition. As a result, it has been categorised for a Variant of Unsure Significance.

This sequence alter influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, that means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in men and women afflicted with GAA-associated ailments.

There is not any purposeful proof in ClinVar for this variation. Should you have created useful knowledge for this variation, remember to look at distributing that info to ClinVar.

This column consists of more information supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations of your variant with the submitter.

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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.

The distributing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.

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Aberrant 5' splice sites in human illness genes: mutation pattern, nucleotide structure and comparison of computational equipment that predict their utilization.

Stars depict the aggregate assessment position, or the level of review supporting the mixture germline classification for this VCV record.

The number of variants in ClinVar for this gene, which includes smaller sized variants in the gene and larger CNVs that overlap or absolutely incorporate the gene.

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Stars characterize the assessment status, or the extent of evaluate supporting the submitted (SCV) history. This benefit is calculated by NCBI based upon facts through the submitter.