thr777 No Further a Mystery
thr777 No Further a Mystery
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The impact on the variant on RNA or protein operate, based upon experimental evidence from submitters.
This sequence modify has an effect on codon 777 with the GAA mRNA. It's a 'silent' improve, 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, which happens to be Element of the consensus splice web site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related situations.
There is absolutely no functional evidence in ClinVar for this variation. When you have produced useful facts for this variation, be sure to take into consideration publishing that facts to ClinVar.
The global small allele frequency calculated from the one thousand Genomes Undertaking. The small allele at this location is indicated in parentheses and could be unique from your allele represented by this VCV document.
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There isn't any citations for germline classification of the variant in ClinVar. If you already know of citations for this variation, be sure to take into consideration publishing that facts to ClinVar.
The number of variants in ClinVar that happen to be contained within this gene, by using a connection to see the list of variants.
These citations are identified by LitVar using the rs selection, so they may thr777 include things like citations for multiple variant at this area. Be sure to assessment the LitVar results meticulously for your variant of curiosity. Report past updated May possibly 19, 2024
Aberrant 5' splice web-sites in human ailment genes: mutation sample, nucleotide construction and comparison of computational tools that forecast their utilization.
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