The outcome with the variant on RNA or protein operate, based upon experimental evidence from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' modify, this means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Portion of the consensus splice web-site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in folks afflicted with GAA-related problems.
This day signifies the final time this VCV document was up to date. The update may very well be resulting from an update to among the incorporated submitted data (SCVs), or as a consequence of an update that ClinVar made for the variant for example incorporating HGVS expressions or maybe a rs selection.
The worldwide minor allele frequency calculated because of the a thousand Genomes Task. The insignificant allele at this locale is indicated in parentheses and may be different from the allele represented by this VCV history.
The problem for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the afflicted standing and allele origin of people observed using this variant.
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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 think about submitting that information to ClinVar.
The volume of variants in ClinVar that happen to be contained in this gene, using a hyperlink to perspective the list of variants.
These citations are determined by LitVar utilizing the rs amount, thr777 so They could consist of citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently to your variant of fascination. History final up to date May well 19, 2024
Aberrant five' splice internet sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
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The quantity of variants in ClinVar for this gene, such as lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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