The best Side of thr777
The best Side of thr777
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The influence on the variant on RNA or protein function, according to experimental proof from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' modify, meaning that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the last nucleotide of exon 16, which is part of the consensus splice web-site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in persons affected with GAA-relevant disorders.
This date represents the last time this VCV file was up-to-date. The update may be as a consequence of an update to one of many provided submitted data (SCVs), or due to an update that ClinVar produced for the variant for instance introducing HGVS expressions or a rs number.
This column incorporates more details supporting the classification, including citations, the comment on classification, and detailed evidence supplied as observations of your variant because of the submitter.
The issue for the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the affected standing and allele origin of people noticed with this particular variant.
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There won't be 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 data to ClinVar.
The number of variants in ClinVar that are contained in just this gene, that has a url to see the listing of variants.
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Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.
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The quantity of variants in ClinVar for this gene, which includes smaller sized variants throughout the gene and larger CNVs that overlap or thr777 entirely contain the gene.
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Stars signify the evaluation status, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI depending on information in the submitter.