MANUAL ARTICLE REVIEW IS REQUIRED FOR THIS ARTICLE

Manual article review is required for this article

ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the effect of sequence improvements on RNA splicing counsel this variant may produce or reinforce a splice web site