thr777 Secrets

thr777 Secrets

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The influence on the variant on RNA or protein operate, determined by experimental evidence from submitters.

This sequence transform has an effect on codon 777 in the GAA mRNA. It is a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in men and women affected with GAA-relevant disorders.

There isn't any practical evidence in ClinVar for this variation. For those who have generated functional data for this variation, please think about submitting that details to ClinVar.

This column includes more info supporting the classification, like citations, the comment on classification, and specific evidence delivered as observations on the variant through the submitter.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also contains the afflicted status and allele origin of individuals noticed with this variant.

The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as from the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI based upon facts from submitters. Read our rules for calculating the combination classification.

There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please consider publishing that information and facts to ClinVar.

The publishing Firm for this submitted (SCV) thr777 record. This column also incorporates the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was last up to date in ClinVar.

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The amount of variants in ClinVar for this gene, including scaled-down variants within the gene and larger CNVs that overlap or fully incorporate the gene.

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