Little Known Facts About thr777.
Little Known Facts About thr777.
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The result from the variant on RNA or protein purpose, dependant on experimental proof from submitters.
This sequence improve impacts codon 777 of the GAA mRNA. This is a 'silent' alter, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which happens to be part 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 described within the literature in persons afflicted with GAA-connected ailments.
There is no functional proof in ClinVar for this variation. If you have created useful facts for this variation, you should take into consideration submitting that knowledge to ClinVar.
The global slight allele frequency calculated through the a thousand Genomes Undertaking. The slight allele at this area is indicated in parentheses and may be diverse from the allele represented by this VCV history.
The affliction for that classification, supplied by the submitter for this submitted (SCV) history. This column also involves the influenced status and allele origin of individuals observed using this type of variant.
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There are no citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to look at submitting that facts to ClinVar.
The publishing Firm for this submitted (SCV) record. This column also incorporates the SCV accession and Edition selection, the date this SCV very first appeared in ClinVar, as well as day that this SCV was previous up to date in ClinVar.
These citations are discovered by thr777 LitVar using the rs range, so they may include things like citations for more than one variant at this spot. Be sure to assessment the LitVar success very carefully for your personal variant of interest. File very last current Could 19, 2024
Aberrant five' splice web-sites in human disorder genes: mutation pattern, nucleotide construction and comparison of computational resources that forecast their utilization.
Stars depict the aggregate review standing, or the level of evaluate supporting the mixture germline classification for this VCV record.
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