The effect on the variant on RNA or protein functionality, dependant on experimental proof from submitters.

This sequence modify affects codon 777 from the GAA mRNA. It's really a 'silent' improve, indicating that it does not alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, which can be Section of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted while in the literature in people afflicted with GAA-connected ailments.

This date signifies the final time this VCV history was updated. The update could possibly be as a result of an update to among the provided submitted data (SCVs), or as a consequence of an update that ClinVar produced for the variant for instance incorporating HGVS expressions or maybe a rs selection.

This column involves more information supporting the classification, which includes citations, the comment on classification, and specific proof delivered as observations of the variant through the submitter.

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The combination germline classification for this variant, generally to get a monogenic or Mendelian condition as during the ACMG/AMP recommendations, or for response into a drug. This value is calculated by NCBI dependant on information from submitters. Study our regulations for calculating the mixture classification.

There won't be any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration publishing that information to ClinVar.

The number of variants in ClinVar that are contained inside of this gene, with a backlink thr777 to check out the list of variants.

These citations are discovered by LitVar utilizing the rs selection, so They might include things like citations for multiple variant at this site. You should critique the LitVar results very carefully to your variant of interest. Record past up to date Could 19, 2024 

Aberrant five' splice web pages in human condition genes: mutation pattern, nucleotide construction and comparison of computational equipment that predict their utilization.

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Stars depict the review position, or the extent of overview supporting the submitted (SCV) history. This benefit is calculated by NCBI depending on details in the submitter.