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SYNE1, IVS84AS, A-G, -2 AND Spinocerebellar ataxia, autosomal recessive 8

Significance: Pathogenic
ClinVar: RCV000002415

Variant: SYNE1, IVS84AS, A-G, -2

Type: Variant
Allele: SYNE1, IVS84AS, A-G, -2 17364
Gene:
Type: single nucleotide variant
References: OMIM: 608441.0001

Condition

Disease: Spinocerebellar ataxia, autosomal recessive 8

Citation

    In affected members of French Canadian families, originating from the Beauce and Bas-St-Laurent regions of the province of Quebec, Gros-Louis et al. (2007) found that adult-onset autosomal recessive cerebellar ataxia (610743) was associated with homozygous mutation in the SYNE1 gene that affected the invariant A of the AG splice acceptor site at the junction of exon 85 and intron 84 (310067A-G).
PMID:17159980