Not known Factual Statements About thr777
Not known Factual Statements About thr777
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The influence on the variant on RNA or protein perform, determined by experimental evidence from submitters.
This sequence improve 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 of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been described during the literature in folks influenced with GAA-related problems.
This day signifies the final time this VCV report was up-to-date. The update can be on account of an update to one of many involved submitted records (SCVs), or as a consequence of an update that ClinVar created into the variant like including HGVS expressions or a rs selection.
This column consists of more information supporting the classification, together with citations, the comment on classification, and comprehensive proof provided as observations of your variant from the submitter.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, make sure you think about submitting that information to ClinVar.
The publishing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the day this SCV very first appeared in ClinVar, and also the date this SCV was final up-to-date in ClinVar.
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Stars symbolize the assessment status, or the extent of critique supporting the submitted (SCV) report. This price is thr777 calculated by NCBI determined by knowledge from your submitter.