The result in the variant on RNA or protein perform, determined by experimental evidence from submitters.
This sequence alter influences codon 777 in the GAA mRNA. It's really 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 A part 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 claimed inside the literature in folks afflicted with GAA-associated problems.
There isn't any practical evidence in ClinVar for this variation. When you have generated purposeful details for this variation, be sure to consider publishing that facts to ClinVar.
The worldwide small allele frequency calculated through the 1000 Genomes Challenge. The minimal allele at this spot is indicated in parentheses and will be distinctive through the allele represented by this VCV report.
The condition for your classification, provided by the submitter for this submitted (SCV) history. This column also includes the afflicted position and allele origin of individuals observed using this type of variant.
The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as during the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our thr777 procedures for calculating the aggregate classification.
Browse our procedures for calculating the evaluate standing. This column also includes a link into the submitter’s assertion conditions if presented, and the collection method.
The publishing Firm for this submitted (SCV) record. This column also consists of the SCV accession and version quantity, the day this SCV initial appeared in ClinVar, as well as date this SCV was last up-to-date in ClinVar.
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The volume of variants in ClinVar for this gene, which includes lesser variants inside the gene and bigger CNVs that overlap or totally consist of the gene.
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Stars characterize the evaluate standing, or the level of evaluation supporting the submitted (SCV) record. This benefit is calculated by NCBI dependant on details within the submitter.