The number of variants in ClinVar which might be contained in just this gene, with a link to check out the list of variants.

Stars symbolize the review standing, or the extent of evaluation supporting the submitted (SCV) record. This price is calculated by NCBI based on knowledge from the submitter.

The number of variants in ClinVar for this gene, such as smaller sized variants in the gene and bigger CNVs that overlap or absolutely include the gene.

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These citations are recognized by LitVar utilizing the rs quantity, so They might include citations for more than one variant at this location. Remember to evaluate the LitVar final results meticulously for your personal variant of curiosity. Report past updated May possibly 19, 2024 

These citations are determined by LitVar utilizing the rs variety, so They might include things like citations for multiple variant at this locale. Be sure to review the LitVar success cautiously for the variant of fascination. File final updated May perhaps twelve, 2024 

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This date represents the final time this VCV history was updated. The update may be because of an update to among the integrated submitted records (SCVs), or resulting from an update that ClinVar designed to your variant for example including HGVS expressions or perhaps a rs quantity.

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This sequence transform influences codon 777 of the GAA mRNA. It is a 'silent' alter, which means that it does not alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, that is A part of the consensus splice website for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been noted within the literature in people afflicted with GAA-linked problems.

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