The influence with the variant on RNA or protein operate, dependant on experimental proof from submitters.
This sequence transform has an effect on codon 777 in the GAA mRNA. This is a 'silent' adjust, which means that it doesn't alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which is A part of the consensus splice site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in men and women affected with GAA-connected circumstances.
This day signifies the last time this VCV file was current. The update might be on account of an update to one of several bundled submitted data (SCVs), or because of an update that ClinVar designed for the variant such as including HGVS expressions or simply a rs variety.
This column involves more details supporting the classification, which include citations, the comment on classification, and in-depth proof furnished as observations in the variant by the submitter.
The problem to the classification, supplied by the submitter for this submitted (SCV) record. This column also involves the afflicted position and allele origin of individuals observed using this variant.
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Go through our regulations for calculating the evaluation status. This column also features a hyperlink into the submitter’s assertion standards if provided, and the collection technique.
The amount of variants in ClinVar that are contained inside this gene, by using a url to watch the listing of variants.
These citations are determined by LitVar utilizing the rs number, so they may involve citations for multiple variant at this area. Remember to assessment the LitVar outcomes carefully for your variant of fascination. Record previous updated May well 19, 2024
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The amount of variants in ClinVar for this gene, like more compact variants inside the gene and bigger CNVs that overlap or fully comprise the gene.
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Stars symbolize the evaluation position, or the extent of review supporting the submitted (SCV) record. This price is calculated by NCBI determined by details from the submitter.