The outcome of the variant on RNA or protein perform, dependant on experimental proof from submitters.
This sequence modify affects codon 777 of your GAA mRNA. It's a 'silent' change, that means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which is A part of the consensus splice website for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in men and women afflicted with GAA-associated ailments.
There is absolutely no useful evidence in ClinVar for this variation. In case you have produced functional data for this variation, please consider publishing that data to ClinVar.
The worldwide insignificant allele frequency calculated by the a thousand Genomes Job. The slight allele at this area is indicated in parentheses and may be unique from the allele represented by this VCV document.
The ailment to the classification, furnished by the submitter for this submitted (SCV) report. This column also consists of the afflicted status and allele thr777 origin of individuals noticed using this variant.
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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 info to ClinVar.
The quantity of variants in ClinVar that are contained within this gene, which has a url to see the listing of variants.
These citations are recognized by LitVar utilizing the rs quantity, so they may include things like citations for multiple variant at this place. You should evaluation the LitVar effects cautiously in your variant of desire. Document very last current May 19, 2024
Aberrant 5' splice web pages in human ailment genes: mutation pattern, nucleotide composition and comparison of computational instruments that forecast their utilization.
Stars represent the aggregate overview position, or the extent of evaluate supporting the combination germline classification for this VCV document.
The volume of variants in ClinVar for this gene, such as smaller sized variants inside the gene and larger CNVs that overlap or absolutely incorporate the gene.
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Stars represent the assessment standing, or the level of overview supporting the submitted (SCV) file. This price is calculated by NCBI based upon facts from the submitter.