The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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The influence in the variant on RNA or protein function, depending on experimental evidence from submitters.
This sequence alter influences codon 777 in the GAA mRNA. It's really a 'silent' improve, that means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice web site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-associated ailments.
There isn't a practical evidence in ClinVar for this variation. When you've got produced practical data for this variation, be sure to look at submitting that info to ClinVar.
The global minor allele frequency calculated by the a thousand Genomes Job. The minimal allele at this spot is indicated in parentheses and will be various from the allele represented by this VCV history.
The situation for the classification, furnished by the submitter for this submitted (SCV) record. This column also contains the affected standing and allele origin of people observed with this particular variant.
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There won't be any citations for germline classification of thr777 the variant in ClinVar. If you understand of citations for this variation, remember to take into account distributing that data to ClinVar.
The publishing Corporation for this submitted (SCV) record. This column also consists of the SCV accession and Variation variety, the date this SCV initially appeared in ClinVar, along with the day that this SCV was past up to date in ClinVar.
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Aberrant 5' splice web sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational resources that forecast their utilization.
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or completely comprise the gene.
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Stars stand for the evaluate status, or the extent of overview supporting the submitted (SCV) document. This benefit is calculated by NCBI determined by info from the submitter.