The effect of your variant on RNA or protein functionality, based upon experimental proof from submitters.

This sequence modify affects codon 777 from the GAA mRNA. It is a 'silent' adjust, that means that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Component of the consensus splice web page for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed within the literature in folks afflicted with GAA-associated problems.

This day represents the final time this VCV record was current. The update could possibly be on account of an update to among the bundled submitted documents (SCVs), or as a consequence of an update that ClinVar produced into the variant like incorporating HGVS expressions or possibly a rs range.

This column involves more information supporting the classification, together with citations, the comment on classification, and comprehensive proof provided as observations of your variant through the submitter.

The situation with the classification, supplied by the submitter for this submitted (SCV) report. This column also consists of the impacted status and allele origin of people observed using this variant.

The mixture germline classification for this variant, usually for your monogenic or Mendelian ailment as within the ACMG/AMP tips, or for reaction to some drug. This worth is calculated by NCBI dependant on details from submitters. Read through our rules for calculating the aggregate classification.

Go through our principles for calculating the assessment status. This column also features a backlink on the submitter’s assertion requirements if supplied, and the gathering method.

The distributing Firm for this submitted (SCV) document. This column also features the SCV accession and Edition variety, the date this SCV first appeared in ClinVar, plus the date that this SCV was last updated in ClinVar.

These citations are discovered by LitVar using the rs range, so they may incorporate citations for more than one variant at this area. You should review thr777 the LitVar benefits carefully in your variant of fascination. Record final up-to-date May perhaps 19, 2024 

Aberrant five' splice web pages in human ailment genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.

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The number of variants in ClinVar for this gene, including lesser variants throughout the gene and larger CNVs that overlap or absolutely consist of the gene.

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