thr777 Secrets
thr777 Secrets
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The impact of the variant on RNA or protein functionality, according to experimental proof from submitters.
This sequence modify impacts codon 777 on the GAA mRNA. This is a 'silent' alter, 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 sixteen, which is Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in men and women afflicted with GAA-associated ailments.
There is no practical evidence in ClinVar for this variation. For those who have generated functional information for this variation, make sure you contemplate submitting that information to ClinVar.
This column involves more details supporting the classification, such as citations, the touch upon classification, and in depth proof furnished as observations in the variant through the submitter.
The ailment with the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected position and allele origin of individuals observed with this variant.
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Examine our regulations for calculating the critique standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection method.
The publishing Firm for this submitted (SCV) record. This column also features the SCV accession and Edition number, the date this SCV first appeared in ClinVar, plus the date that this SCV was previous updated in ClinVar.
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