Everything about thr777

Everything about thr777

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The influence on the variant on RNA or protein perform, determined by experimental evidence from submitters.

This sequence alter has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, which means that it doesn't change the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been noted during the literature in folks influenced with GAA-related situations.

This day signifies the final time this VCV record was up to date. The update may be resulting from an update to one of many involved submitted documents (SCVs), or because of an update that ClinVar manufactured to your variant such as adding HGVS expressions or perhaps a rs number.

The worldwide insignificant allele frequency calculated via the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and could be distinctive with the allele represented by this VCV file.

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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you think about submitting that information to ClinVar.

The amount of variants in ClinVar which are contained in this gene, having a backlink to look at the list of variants.

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Stars characterize the mixture critique position, or the extent of critique supporting the aggregate germline classification for this VCV report.

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Stars depict the critique standing, or the level of review thr777 supporting the submitted (SCV) record. This price is calculated by NCBI based upon knowledge through the submitter.