Table 3.

Notable DAB1 Pathogenic Variants

Reference SequencesDNA Nucleotide ChangeComment [Reference]
MK015668
NM_021080​.4 		(ATTTC)31-75 1 in an intron within DAB1 2Located in a 5'UTR intron, flanked by (ATTTT)n on both sides [Seixas et al 2017, Corral-Juan et al 2018]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

2.

The (ATTTC)31-75 insertion causes overexpression of an alternatively spliced transcript (NCBI/GenBank accession: MK015668) in the human cerebellum, the main site of SCA37 pathology [Corral-Juan et al 2018].

From: Spinocerebellar Ataxia Type 37

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