Everything about thr777
Everything about thr777
Blog Article
ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the influence of sequence modifications on RNA splicing recommend this variant may perhaps create or strengthen a splice web site. In summary, the readily available proof is presently insufficient to determine the function of the variant in ailment. For that reason, it's been categorized as being a Variant of Uncertain Significance.
This sequence improve has an effect on codon 777 with the GAA mRNA. It's a 'silent' adjust, that means that it doesn't change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Component of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks impacted with GAA-connected problems.
There is not any functional proof in ClinVar for this variation. In case you have generated purposeful info for this variation, make sure you contemplate submitting that information to ClinVar.
This column includes more details supporting the classification, which include citations, the comment on classification, and comprehensive proof presented as observations in the variant by the submitter.
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There are no citations for germline classification of this variant in ClinVar. If you are aware of of citations for this variation, be sure to take into consideration distributing thr777 that info to ClinVar.
The submitting organization for this submitted (SCV) report. This column also contains the SCV accession and version variety, the date this SCV 1st appeared in ClinVar, as well as the day this SCV was previous current in ClinVar.
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