The outcome with the variant on RNA or protein perform, determined by experimental proof from submitters.
This sequence adjust has an effect on codon 777 on the GAA mRNA. It's a 'silent' modify, that means that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported from the literature in people today afflicted with GAA-similar disorders.
There is absolutely no useful proof in ClinVar for this variation. In case you have created purposeful data for this variation, make sure you consider distributing that facts to ClinVar.
The worldwide insignificant allele frequency calculated with the a thousand Genomes Undertaking. The small allele at this locale is indicated in parentheses and will be diverse with the allele represented by this VCV record.
The problem with the classification, supplied by the submitter for this submitted (SCV) document. This column also features the impacted standing and allele origin of people observed with this particular variant.
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There are no citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, remember to consider submitting that data to ClinVar.
The submitting Group for this submitted (SCV) file. This column also consists of the SCV accession and Model quantity, the day this SCV first appeared in ClinVar, as well as day that this SCV was previous current in ClinVar.
These citations are determined by LitVar utilizing the rs number, so they may include things like citations for multiple variant at this location. Make sure you overview the LitVar success very carefully on your variant of fascination. Report very last up-to-date May well 19, 2024
Aberrant 5' splice web-sites in human illness genes: mutation pattern, nucleotide framework and comparison of computational tools that forecast their utilization.
Stars symbolize the mixture review status, or the level of critique supporting the combination germline classification for this VCV record.
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The site is protected. The thr777 https:// ensures you are connecting for the official Web site Which any information and facts you deliver is encrypted and transmitted securely.
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