Little Known Facts About thr777.
Little Known Facts About thr777.
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The outcome on the variant on RNA or protein purpose, according to experimental evidence from submitters.
This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, this means 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 can be part of the consensus splice website for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been noted while in the literature in people influenced with GAA-related situations.
This day signifies the final time this VCV record was updated. The update could possibly be because of an update to one of many incorporated submitted documents (SCVs), or as a result of an update that ClinVar manufactured to your variant such as introducing HGVS expressions or perhaps a rs quantity.
This column features additional information supporting the classification, which includes citations, the touch upon classification, and specific evidence delivered as observations on the variant from the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals noticed using this variant.
The combination germline classification for this variant, typically to get a monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI based thr777 on data from submitters. Browse our procedures for calculating the mixture classification.
Examine our guidelines for calculating the assessment status. This column also features a link to the submitter’s assertion conditions if provided, and the gathering approach.
The submitting Firm for this submitted (SCV) record. This column also features the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was very last updated in ClinVar.
These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for more than one variant at this locale. Make sure you critique the LitVar outcomes thoroughly for the variant of curiosity. Report last up to date May possibly 19, 2024
Aberrant 5' splice websites in human illness genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.
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The volume of variants in ClinVar for this gene, like smaller variants within the gene and bigger CNVs that overlap or entirely incorporate the gene.
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Stars stand for the evaluate position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.