The influence from the variant on RNA or protein perform, based upon experimental proof from submitters.
This sequence alter has an effect on codon 777 with the GAA mRNA. This is a 'silent' alter, which means that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Component of the consensus splice site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed within the literature in persons impacted with GAA-related problems.
There is no useful proof in ClinVar for this variation. When you've got created purposeful facts for this variation, remember to contemplate submitting that information to ClinVar.
The worldwide insignificant allele frequency calculated with the 1000 Genomes Job. The minimal allele at this place is indicated in parentheses and should be unique within the allele represented by this VCV file.
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Go through our procedures for calculating the evaluate position. This column also includes a website link towards the submitter’s assertion requirements if offered, and the collection method.
The publishing organization for this submitted (SCV) report. This column also consists of the SCV accession and version range, the day this SCV initial appeared in ClinVar, plus the day this SCV was very last updated in ClinVar.
These citations are identified by LitVar using the rs quantity, so they may include things like citations for multiple variant at this place. You should review the LitVar benefits very carefully in your variant of curiosity. File final up to date May perhaps 19, 2024
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Stars characterize the mixture evaluate status, or the level of assessment supporting the aggregate germline classification for this VCV record.
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The internet site is secure. The https:// makes certain that you are connecting on the Formal Web page Which any information and facts you present is encrypted and transmitted securely.
Stars represent the review standing, or the level of review supporting the submitted (SCV) file. This value is calculated by NCBI based on data with the submitter.