What Does thr777 Mean?
What Does thr777 Mean?
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence modifications on RNA splicing propose this variant may produce or reinforce a splice internet site. In summary, the accessible proof is currently insufficient to find out the job of the variant in ailment. For that reason, it's been categorized as being a Variant of Unsure Significance.
This sequence transform has an effect on codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, that's Section of the consensus splice web site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in persons afflicted with GAA-related ailments.
This day signifies the last time this VCV file was up to date. The update could possibly be due to an update to among the included submitted data (SCVs), or because of an update that ClinVar designed to the variant such as including HGVS expressions or a rs number.
The worldwide small allele frequency calculated via the 1000 Genomes Challenge. The minimal allele at this location is indicated in parentheses and will be different through the allele represented by this VCV record.
The affliction for your classification, provided by the submitter for this submitted (SCV) record. This column also consists of the afflicted position and allele origin of individuals noticed with this variant.
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There isn't any citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, make sure you think about distributing that information and facts to ClinVar.
The number of variants in ClinVar which are contained within just this gene, which has a backlink to watch the listing of variants.
These citations are determined by LitVar using the rs amount, so They might incorporate citations for multiple variant at this area. Make sure you review the LitVar effects cautiously on your variant of fascination. Report past up-to-date Could 19, 2024
Aberrant five' splice sites in human disorder genes: mutation pattern, nucleotide framework and comparison of computational equipment that predict their utilization.
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The amount of variants in ClinVar for this gene, together with more compact variants in the gene and bigger CNVs that overlap or absolutely contain the gene.
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Stars represent the review position, or the level of assessment supporting the submitted (SCV) report. This worth is calculated by NCBI determined by knowledge through the submitter.