The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the result of sequence variations on RNA splicing suggest that this variant could generate or bolster a splice web-site. In summary, the obtainable evidence is at present insufficient to ascertain the job of this variant in ailment. For that reason, it has been categorized as a Variant of Unsure Significance.
This sequence alter influences codon 777 from the GAA mRNA. It is a 'silent' change, that means that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be Section of the consensus splice web-site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been reported within the literature in people affected with GAA-relevant circumstances.
There's no purposeful evidence in ClinVar for this variation. When you've got produced practical knowledge for this variation, be sure to contemplate publishing that facts to ClinVar.
This column incorporates additional information supporting the classification, like citations, the comment on classification, and specific evidence provided as observations with the variant with the submitter.
The problem with the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed with this variant.
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There thr777 aren't any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, remember to consider submitting that info to ClinVar.
The amount of variants in ClinVar which have been contained within just this gene, that has a url to see the list of variants.
These citations are recognized by LitVar utilizing the rs range, so They could include citations for multiple variant at this location. Please evaluation the LitVar benefits very carefully on your variant of interest. History last current May perhaps 19, 2024
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