Indicators on thr777 You Should Know
Indicators on thr777 You Should Know
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The influence on the variant on RNA or protein perform, determined by experimental proof from submitters.
This sequence adjust has an effect on codon 777 of the GAA mRNA. It's a 'silent' adjust, indicating that it does not change the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Element of the consensus splice site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant has not been reported in the literature in individuals afflicted with GAA-relevant problems.
There is absolutely no purposeful evidence in ClinVar for this variation. Should you have produced practical facts for this variation, you should contemplate distributing that knowledge to ClinVar.
This column consists of additional information supporting the classification, together with citations, the touch upon classification, and comprehensive evidence supplied as observations with the variant via the submitter.
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There isn't any citations for germline classification of this variant in ClinVar. If you know of citations for this variation, be sure to look at submitting that facts to ClinVar.
The distributing Business for this submitted (SCV) report. This column also incorporates the SCV accession and Edition number, the day this SCV 1st appeared in ClinVar, along with the date that this SCV was last up-to-date in ClinVar.
These citations are recognized by LitVar utilizing the rs amount, so They could incorporate citations for multiple variant at this spot. Please critique the LitVar outcomes diligently in your variant of interest. Document past updated May well 19, 2024
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