thr777 Things To Know Before You Buy
thr777 Things To Know Before You Buy
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This sequence transform impacts codon 777 from the GAA mRNA. It's really a 'silent' transform, which means that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be Element of the consensus splice website for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described while in the literature in people influenced with GAA-associated disorders.
This column contains more details supporting the classification, which includes citations, the comment on classification, and comprehensive proof furnished as observations of your variant because of the submitter.
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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please think about submitting that facts to ClinVar.
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The submitting Business for this submitted (SCV) file. This column also incorporates the SCV accession and Edition selection, the day this SCV first appeared in ClinVar, along with the day this SCV was final up-to-date in ClinVar.
The impact from the variant on RNA or protein purpose, according to experimental proof from submitters.
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These citations are determined by LitVar using the rs variety, so They could include citations for multiple variant at this locale. Make sure you overview the LitVar benefits thoroughly in your variant of fascination. File last up-to-date May perhaps 12, 2024
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