Detailed Notes on thr777

Detailed Notes on thr777

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

This sequence modify has an effect on codon 777 on the GAA mRNA. It's a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Portion of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked circumstances.

This date represents the last time this VCV report was current. The update could be as a consequence of an update to one of many provided submitted documents (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or perhaps a rs amount.

This column contains more information supporting the classification, together with citations, the comment on classification, and comprehensive proof supplied as observations of the variant because of the submitter.

The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people observed using this type of variant.

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There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to take into account distributing that details to ClinVar.

The submitting Group for this submitted (SCV) file. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date this SCV was previous current in ClinVar.

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Aberrant five' splice internet sites in human ailment genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.

Stars signify the combination critique status, or the extent of overview supporting the aggregate germline classification for this VCV history.

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