ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the effect of sequence modifications on RNA splicing suggest that this variant may build or fortify a splice web-site. In summary, the offered evidence is now insufficient to determine the purpose of this variant in illness. Consequently, it's been labeled as being a Variant of Unsure Significance. (a lot less)
The aggregate germline classification for this variant, generally for just a monogenic or Mendelian ailment as inside the ACMG/AMP suggestions, or for response to some drug. This worth is calculated by NCBI determined by facts from submitters. Examine our procedures for calculating the combination classification.
This value is calculated by NCBI according to info from submitters. Read our policies for calculating the critique position. The number of submissions which contribute to this overview status is revealed in parentheses.
The volume of variants in ClinVar for this gene, which includes scaled-down variants throughout the gene and larger CNVs that overlap or completely consist of the gene.
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These citations are discovered by LitVar using the rs amount, so they may include citations for multiple variant at this site. Remember to assessment the LitVar final results cautiously for your variant of desire. Report previous up-to-date Could twelve, 2024
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