The influence of your variant on RNA or protein functionality, according to experimental proof from submitters.
This sequence modify affects codon 777 of your GAA mRNA. It's a 'silent' adjust, this means that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is Element of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported inside the literature in folks influenced with GAA-connected problems.
There is not any functional evidence in ClinVar for this variation. In case you have generated useful facts for this variation, please take into account publishing that info to ClinVar.
This column features more details supporting the classification, such as citations, the comment on classification, and detailed proof provided as observations with the variant because of the submitter.
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The combination germline classification for this variant, typically for any monogenic or Mendelian problem as during the ACMG/AMP recommendations, or for response to some drug. This price is calculated by NCBI based on details from submitters. Study our guidelines for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that data to ClinVar.
The publishing Firm for this submitted (SCV) record. This column also incorporates the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was past up to date in ClinVar.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this area. Be sure to evaluation the LitVar effects cautiously in your variant of interest. File very last updated Could 19, 2024
Aberrant five' splice internet sites in human ailment genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
Stars symbolize the aggregate evaluate standing, or the level of critique supporting the thr777 mixture germline classification for this VCV record.
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Stars signify the critique position, or the level of evaluate supporting the submitted (SCV) document. This worth is calculated by NCBI determined by facts from the submitter.