Examine This Report on thr777

Examine This Report on thr777

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The outcome on the variant on RNA or protein function, according to experimental evidence from submitters.

This sequence transform has an effect on codon 777 on the GAA mRNA. It's really a 'silent' modify, indicating that it does not change the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon sixteen, and that is A part of the consensus splice internet site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted while in the literature in folks affected with GAA-connected circumstances.

There is not any useful evidence in ClinVar for this variation. Should you have created useful facts for this variation, be sure to look at submitting that info to ClinVar.

The worldwide small allele frequency calculated through the one thousand Genomes Task. The minor allele at this locale is indicated in parentheses and may be different from the allele represented by this VCV history.

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The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI dependant on knowledge from submitters. Study our policies for calculating the mixture classification.

There isn't 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 publishing Firm for thr777 this submitted (SCV) document. This column also features the SCV accession and Edition quantity, the day this SCV initial appeared in ClinVar, as well as date this SCV was last up to date in ClinVar.

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Stars stand for the combination evaluation status, or the extent of evaluation supporting the combination germline classification for this VCV document.

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