The Fact About thr777 That No One Is Suggesting
The Fact About thr777 That No One Is Suggesting
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The impact from the variant on RNA or protein function, according to experimental evidence from submitters.
This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' change, indicating that it doesn't change the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Component of the consensus splice website for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented from the literature in people today affected with GAA-relevant disorders.
There is absolutely no useful evidence in ClinVar for this variation. For those who have generated functional information for this variation, please think about submitting that details to ClinVar.
This column features additional information supporting the classification, which includes citations, the touch upon classification, and specific evidence delivered as observations on the variant from the submitter.
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The combination germline classification for this variant, usually for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Read through our regulations for calculating the mixture classification.
There won't be any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that information and facts to ClinVar.
The submitting Group for this submitted (SCV) document. This column also includes the SCV accession and Model quantity, the day this SCV initial appeared in ClinVar, as well as date that this SCV was final current in ClinVar.
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Stars signify the combination critique status, or the extent of overview supporting the aggregate germline classification for this VCV history.
The quantity of variants in ClinVar for this gene, such as lesser variants in the gene and bigger CNVs that overlap or absolutely consist of the gene.
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Stars stand for the evaluate standing, or the level of evaluation supporting the submitted (SCV) record. This value is calculated by NCBI based on details within the submitter.