Not known Factual Statements About thr777
Not known Factual Statements About thr777
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ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the influence of sequence modifications on RNA splicing recommend that this variant might develop or bolster a splice internet site. In summary, the available proof is now inadequate to find out the part of this variant in disease. Therefore, it's been labeled like a Variant of Uncertain Importance.
This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, indicating 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 current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-similar situations.
This day signifies the final time this VCV history was updated. The update could possibly be because of an update to one of several bundled submitted documents (SCVs), or because of an update that ClinVar created on the variant which include introducing HGVS expressions or a rs number.
This column involves more info supporting the classification, including citations, the comment on classification, and in-depth evidence offered as observations on the variant by the submitter.
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There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that information and facts to ClinVar.
The amount of variants in ClinVar which are contained within just this gene, that has a website link to perspective the list of variants.
These citations are determined by LitVar using the rs selection, so they may involve citations for more than one variant at this spot. Make sure you critique the LitVar outcomes thoroughly for the variant of fascination. Report last up to date May possibly 19, 2024
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Stars stand for the mixture review standing, or the extent of assessment supporting the combination germline classification for this VCV file.
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