Details, Fiction and thr777

The influence of your variant on RNA or protein operate, based on experimental proof from submitters.

This sequence transform impacts codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice website for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in individuals impacted with GAA-linked conditions.

This date represents the last time this VCV report was updated. The update could possibly be because of an update to among the list of bundled submitted records (SCVs), or as a result of an update that ClinVar manufactured into the variant such as adding HGVS expressions or even a rs variety.

This column consists of more details supporting the classification, together with citations, the touch upon classification, and specific proof furnished as observations on the variant via the submitter.

The ailment for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted standing and allele origin of people observed with this particular variant.

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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to think about distributing that information and facts to ClinVar.

The publishing Business for this submitted (SCV) record. This column also includes the SCV accession and version quantity, the day this SCV initial appeared in ClinVar, and the date this SCV was last current in ClinVar.

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Stars stand for the combination overview status, or the level of critique supporting the combination germline classification for this VCV report.

The amount of variants in ClinVar for this gene, such as more compact variants within the gene and bigger CNVs that overlap or totally incorporate the gene.

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Stars signify the review standing, thr777 or the level of evaluate supporting the submitted (SCV) document. This benefit is calculated by NCBI based upon information within the submitter.