The effect of your variant on RNA or protein purpose, dependant on experimental proof from submitters.
This sequence modify affects codon 777 on the GAA mRNA. It's a 'silent' improve, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people impacted with GAA-similar circumstances.
There's no purposeful proof in ClinVar for this variation. When you've got generated practical details for this variation, please contemplate distributing that details to ClinVar.
This column consists of more information supporting the classification, together with citations, the comment on classification, and detailed proof supplied as observations of your variant with the submitter.
The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the afflicted status and allele origin of individuals noticed with this variant.
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There are no citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to look at distributing that data to ClinVar.
The submitting Group for this submitted (SCV) file. This column also consists of the SCV accession and Edition quantity, the day this SCV very first appeared thr777 in ClinVar, and the date this SCV was final up-to-date in ClinVar.
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Stars characterize the mixture evaluation position, or the level of review supporting the combination germline classification for this VCV file.
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