thr777 Options
thr777 Options
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the influence of sequence variations on RNA splicing advise that this variant may well develop or fortify a splice web-site. In summary, the offered proof is currently insufficient to determine the job of the variant in sickness. Consequently, it has been categorized as a Variant of Unsure Importance.
This sequence transform influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that is Component of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed while in the literature in people today impacted with GAA-linked situations.
This day represents the last time this VCV report was up-to-date. The update may be as a result of an update to among the list of bundled submitted data (SCVs), or on account of an update that ClinVar manufactured for the variant including adding HGVS expressions or perhaps a rs range.
This column features more info supporting the classification, including citations, the touch upon classification, and in-depth proof presented as observations from the variant by the submitter.
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There won't be any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please think about submitting that details to ClinVar.
The quantity of variants in ClinVar that happen to be contained in this gene, using a link to perspective the list of variants.
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The amount of variants in ClinVar for this gene, together with more compact variants within the gene and larger CNVs that overlap or absolutely have the gene.
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Stars signify the overview standing, or the level of review supporting the submitted (SCV) record. This benefit is calculated by NCBI based upon details within the submitter.