The influence from the variant on RNA or protein purpose, depending on experimental evidence from submitters.

This sequence alter has an effect on codon 777 in the GAA mRNA. It is a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, that's part of the consensus splice web-site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant conditions.

This date represents the last time this VCV report was current. The update might be as a result of an update to among the list of included submitted records (SCVs), or on account of an update that ClinVar designed to the variant like including HGVS expressions or possibly a rs range.

The worldwide slight allele frequency calculated through the 1000 Genomes Project. The insignificant allele at this site is indicated in parentheses and may be various from the allele represented by this VCV report.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of people noticed with this variant.

The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for reaction to a drug. This value is calculated by NCBI according to information from submitters. Examine our regulations for calculating the combination classification.

There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that information and facts to ClinVar.

The submitting Group for this submitted (SCV) document. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date this SCV was last thr777 up to date in ClinVar.

These citations are identified by LitVar using the rs range, so they may include things like citations for multiple variant at this area. Be sure to assessment the LitVar effects cautiously in your variant of desire. Report last current May possibly 19, 2024 

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The amount of variants in ClinVar for this gene, which include smaller sized variants in the gene and larger CNVs that overlap or entirely contain the gene.

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Stars stand for the evaluate standing, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on facts with the submitter.