Rumored Buzz on thr777
Rumored Buzz on thr777
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The outcome of your variant on RNA or protein operate, depending on experimental proof from submitters.
This sequence change impacts codon 777 from the GAA mRNA. This is a 'silent' adjust, which means that it doesn't alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice web page for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been described while in the literature in individuals afflicted with GAA-connected circumstances.
There isn't a useful evidence in ClinVar for this variation. In case you have generated purposeful data for this variation, be sure to consider distributing that info to ClinVar.
This column consists of more info supporting the classification, such as citations, the comment on classification, and specific evidence presented as observations of your variant because of the submitter.
The ailment for that classification, supplied by the submitter for this submitted (SCV) document. This column also includes the influenced status and allele origin of individuals noticed with this variant.
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There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, remember to look at submitting that data to ClinVar.
The volume of variants in ClinVar which might be contained in this gene, which has a link to look at the listing of variants.
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Stars depict the mixture review standing, or the extent of critique supporting the mixture germline classification for this VCV record.
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