5 Easy Facts About thr777 Described
5 Easy Facts About thr777 Described
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The influence on the variant on RNA or protein perform, determined by experimental evidence from submitters.
This sequence alter has an effect on codon 777 in the GAA mRNA. It's really a 'silent' adjust, meaning that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside the literature in people today affected with GAA-relevant conditions.
There is absolutely no functional evidence in ClinVar for this variation. If you have created purposeful data for this variation, please contemplate submitting that information to ClinVar.
This column contains more information supporting the classification, including citations, the comment on classification, and detailed proof furnished as observations on the variant through the submitter.
The situation with the classification, supplied by the submitter for this submitted (SCV) history. This column also involves the affected standing and allele origin of people noticed with this particular variant.
The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Read through our policies for calculating the mixture classification.
There won't be any citations for germline classification of this variant in ClinVar. If you recognize of citations for this variation, remember to look at distributing that details to ClinVar.
The number of variants in ClinVar which have been thr777 contained within just this gene, using a hyperlink to view the list of variants.
These citations are identified by LitVar utilizing the rs quantity, so They might consist of citations for multiple variant at this locale. Remember to evaluate the LitVar final results diligently to your variant of fascination. Report past up-to-date Might 19, 2024
Aberrant 5' splice web pages in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
Stars signify the combination overview status, or the extent of overview supporting the combination germline classification for this VCV history.
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