The best Side of thr777
The best Side of thr777
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The result in the variant on RNA or protein function, depending on experimental proof from submitters.
This sequence transform impacts codon 777 of your GAA mRNA. This is a 'silent' change, indicating that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, which is Element of the consensus splice web site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented in the literature in folks influenced with GAA-related circumstances.
There is absolutely no useful evidence in ClinVar for this variation. For those who have produced functional information for this variation, make sure you think about submitting that data to ClinVar.
The global minimal allele frequency calculated via the a thousand Genomes Task. The slight allele at this place is indicated in parentheses and may be different from your allele represented by this VCV history.
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The mixture germline classification for this variant, generally for just a monogenic or Mendelian disorder as inside the ACMG/AMP tips, or for reaction to your drug. This price is calculated by NCBI dependant on data from submitters. Read our guidelines for calculating the aggregate 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 amount of variants in ClinVar which are contained within this gene, that has a url to see the listing of variants.
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The quantity of variants in ClinVar for this gene, which includes smaller sized variants in the gene and bigger CNVs that overlap or entirely contain the gene.
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