A Simple Key For thr777 Unveiled
A Simple Key For thr777 Unveiled
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The impact from the variant on RNA or protein function, according to experimental proof from submitters.
This sequence alter has an effect on codon 777 in the GAA mRNA. It is a 'silent' adjust, that means that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be Portion of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been noted during the literature in folks influenced with GAA-related problems.
This day represents the last time this VCV file was current. The update might be as a consequence of an update to one of many provided submitted data (SCVs), or due to an update that ClinVar produced into the variant like including HGVS expressions or possibly a rs range.
This column incorporates more details supporting the classification, such as citations, the touch upon classification, and thorough evidence presented as observations in the variant because of the submitter.
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Read through our regulations for calculating the critique standing. This column also includes a link towards the submitter’s assertion criteria if supplied, and the collection technique.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Variation amount, the day this SCV 1st appeared in ClinVar, as well as the day that this SCV was previous current in ClinVar.
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Aberrant five' splice sites in human disorder genes: mutation pattern, nucleotide framework and comparison of computational resources that predict their utilization.
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The amount of variants in ClinVar for this gene, which includes smaller variants inside the gene and bigger CNVs that overlap or completely comprise the gene.
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Stars represent the review position, or the extent of critique supporting the submitted (SCV) report. This value is calculated by NCBI according to facts in the submitter.