The 5-Second Trick For link thr777
The 5-Second Trick For link thr777
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Comment: This sequence transform impacts codon 777 in the GAA mRNA. It's a 'silent' adjust, indicating that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be A part of the consensus splice site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in men and women influenced with GAA-similar situations.
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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the outcome of sequence alterations on RNA splicing recommend this variant may generate or bolster a splice site. In summary, the accessible evidence is at this time inadequate to determine the function of the variant in ailment. Thus, it's been categorised as being a Variant of Unsure Importance. (significantly less)
So this date may be distinct within the date from the “newest submission” reported at the very best of this web page. Assistance Observe NCBI
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There is absolutely no useful evidence in ClinVar for this variation. In case you have produced functional information for this variation, be sure to consider publishing that data to ClinVar.
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and Variation range, the date this SCV very first appeared in ClinVar, as well as the date this SCV was previous updated in ClinVar.
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The effect with the variant on RNA or protein perform, dependant on experimental evidence from submitters.
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The thr777 worldwide insignificant allele frequency calculated through the one thousand Genomes Challenge. The small allele at this spot is indicated in parentheses and could be different within the allele represented by this VCV document.
This value is calculated by NCBI based upon information from submitters. Examine our guidelines for calculating the critique status. The quantity of submissions which add to this evaluation standing is revealed in parentheses.