thr777 Options
thr777 Options
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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 formulated to predict the effect of sequence variations on RNA splicing suggest this variant may perhaps create or bolster a splice internet site. In summary, the available evidence is presently insufficient to ascertain the position of this variant in illness. Consequently, it's been labeled for a Variant of Uncertain Importance.
This sequence modify affects codon 777 on the GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in men and women afflicted with GAA-associated ailments.
There's no practical evidence in ClinVar for this variation. Should you have created functional data for this variation, please think about submitting that details to ClinVar.
The worldwide minimal allele frequency calculated with the a thousand Genomes Undertaking. The slight allele at this site is indicated in parentheses and may be diverse from your allele represented by this VCV file.
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Go through our regulations for calculating the overview standing. This column also includes a connection to the submitter’s assertion conditions if provided, and the gathering strategy.
The publishing Business for this submitted (SCV) record. This column also incorporates the SCV accession and Edition number, the date thr777 this SCV first appeared in ClinVar, plus the date that this SCV was past up to date in ClinVar.
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