5 Essential Elements For thr777
5 Essential Elements For thr777
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The impact from the variant on RNA or protein function, according to experimental evidence from submitters.
This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' change, indicating 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, which is Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted within the literature in individuals impacted with GAA-similar situations.
This day signifies the final time this VCV record was updated. The update can be as a result of an update to among the list of integrated submitted information (SCVs), or because of an update that ClinVar manufactured to your variant which include adding HGVS expressions or perhaps a rs amount.
The global small allele frequency calculated from the a thousand Genomes Venture. The insignificant allele at this site is indicated in parentheses and should be distinct from your allele represented by this VCV record.
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Go through our principles for calculating the assessment status. This column also features a url for the submitter’s assertion thr777 requirements if provided, and the gathering strategy.
The amount of variants in ClinVar which are contained within just this gene, having a link to perspective the list of variants.
These citations are identified by LitVar using the rs range, so they may include things like citations for more than one variant at this spot. Please assessment the LitVar success very carefully for your personal variant of interest. File past updated Could 19, 2024
Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide structure and comparison of computational applications that forecast their utilization.
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The volume of variants in ClinVar for this gene, which includes smaller variants inside the gene and bigger CNVs that overlap or totally comprise the gene.
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Stars signify the critique position, or the extent of critique supporting the submitted (SCV) record. This benefit is calculated by NCBI according to knowledge through the submitter.