The effect in the variant on RNA or protein purpose, according to experimental proof from submitters.
This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's Portion of the consensus splice site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related situations.
There isn't a functional evidence in ClinVar for this variation. When you've got generated functional data for this variation, make sure you contemplate submitting that data to ClinVar.
The worldwide minimal allele frequency calculated from the one thousand Genomes Venture. The minor allele at this spot is indicated in parentheses and will be different from the allele represented by this VCV report.
The affliction to the classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of individuals noticed with this variant.
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There won't be any citations for germline classification of the variant in ClinVar. If you know of citations for this variation, you should contemplate submitting that details to ClinVar.
The publishing Firm for this submitted (SCV) record. This column also incorporates the SCV accession and Edition quantity, the day this SCV initial appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.
These citations are discovered by LitVar using the rs variety, so They could incorporate citations for multiple variant at this thr777 place. You should review the LitVar benefits diligently to your variant of fascination. History final up to date May well 19, 2024
Aberrant five' splice web-sites in human sickness genes: mutation sample, nucleotide construction and comparison of computational resources that predict their utilization.
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or completely comprise 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 from the submitter.