Fascination About slot thr777
Fascination About slot thr777
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This sequence change influences codon 777 in the GAA mRNA. It is a 'silent' transform, meaning that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Element of the consensus splice internet site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people today impacted with GAA-similar situations.
The amount of variants in ClinVar for this gene, which include smaller variants inside the gene and larger CNVs that overlap or entirely comprise the gene.
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The condition for the classification, provided by the submitter for this submitted (SCV) document. This column also involves the influenced standing and allele origin of individuals observed with this particular variant.
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These citations are determined by LitVar using the rs amount, so They might include citations for more than one variant at this place. Make sure you assessment the LitVar final results very carefully for your personal variant of desire. Report previous updated May 12, 2024
Stars depict the assessment status, or the extent of assessment supporting the submitted (SCV) document. This worth is calculated by NCBI according to information from the submitter.
The result of your variant on RNA or protein perform, dependant on experimental evidence from submitters.
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