Fascination About thr777
Fascination About thr777
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The quantity of variants in ClinVar which have been contained inside of this gene, by using a link to view the list of variants.
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The amount of variants in ClinVar for this gene, which includes lesser variants within the gene and larger CNVs that overlap or thoroughly contain the gene.
ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence changes on RNA splicing advise that this variant may well develop or strengthen a splice internet site. In summary, the accessible evidence is currently inadequate to determine the purpose of this variant in ailment. Therefore, it has been labeled as a Variant of Uncertain Importance. Alright
These citations are determined by LitVar using the rs variety, so they may incorporate citations for multiple variant at this area. Be sure to assessment the LitVar success very carefully on your variant of desire. Document very last current Could 19, 2024
These citations are discovered by LitVar utilizing the rs selection, so they may incorporate citations for multiple variant at this location. Make sure you assessment the LitVar results cautiously to your variant of curiosity. History past current Could twelve, 2024
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This sequence improve has an effect on codon 777 of the GAA mRNA. It is a 'silent' modify, indicating 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, that's Element of the consensus splice website for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed during the literature in individuals afflicted with GAA-related disorders.
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