Everything about thr777

Everything about thr777

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The outcome from the variant on RNA or protein function, determined by experimental evidence from submitters.

This sequence adjust affects 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 last nucleotide of exon 16, which happens to be A part of the consensus splice web-site for this exon. This variant is present in population databases (rs375311693, gnomAD 0.03%). This variant has not been claimed inside the literature in people today affected with GAA-relevant disorders.

There's no practical evidence in ClinVar for this variation. When you have produced practical info for this variation, remember to take into account submitting that information to ClinVar.

The global insignificant allele frequency calculated via the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and could be unique through the allele represented by this VCV document.

The situation with the classification, furnished by the submitter for this submitted (SCV) file. This column also consists of the influenced standing and allele origin of people noticed with this particular variant.

The aggregate germline classification for this variant, normally for the monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Browse our procedures for calculating the combination classification.

There are no citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, be sure to take into account submitting that data to ClinVar.

The amount of variants in ClinVar which are contained within this gene, by using a website link to perspective the listing of variants.

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