The influence on the variant on RNA or protein perform, determined by experimental evidence from submitters.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, which is A part of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in individuals impacted with GAA-linked circumstances.
There isn't any functional proof in ClinVar for this variation. If you have generated purposeful details for this variation, be sure to take into consideration publishing that facts to ClinVar.
This column incorporates additional information supporting the classification, which includes citations, the touch upon classification, and thorough evidence furnished as observations in the variant from the submitter.
The ailment to the classification, furnished by the submitter for this submitted (SCV) file. This column also includes the influenced position and allele origin of individuals noticed using this type of variant.
The mixture germline classification for this variant, ordinarily for a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Go through our policies for calculating the mixture classification.
There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that information to ClinVar.
The number of variants in ClinVar that are contained in just this gene, that has a url to see the listing of variants.
These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this place. You should evaluation the LitVar effects cautiously on your variant of desire. Document previous thr777 current May 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that predict their utilization.
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The volume of variants in ClinVar for this gene, such as smaller variants in the gene and larger CNVs that overlap or absolutely incorporate the gene.
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Stars stand for the evaluate position, or the level of evaluation supporting the submitted (SCV) document. This benefit is calculated by NCBI based on details within the submitter.