Everything about thr777

Everything about thr777

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The outcome with the variant on RNA or protein operate, based upon experimental evidence from submitters.

This sequence adjust impacts codon 777 in the GAA mRNA. It is a 'silent' modify, meaning that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, that is A part of the consensus splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in folks afflicted with GAA-associated conditions.

This day signifies the last time this VCV report was up to date. The update could be on account of an update to among the bundled submitted records (SCVs), or as a result of an update that ClinVar designed to the variant like introducing HGVS expressions or simply a rs amount.

The global insignificant allele frequency calculated by the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be various in the allele represented by this VCV history.

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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please contemplate submitting that info to ClinVar.

The quantity of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.

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The amount of variants in ClinVar for this gene, together with more compact variants throughout the gene and larger CNVs that overlap or thoroughly include the gene.

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Stars represent the review position, or the level of assessment supporting the submitted (SCV) document. This value is calculated by NCBI based on details within the submitter.