GENETIC ENCYCLOPEDIA
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NM_033071.3(SYNE1):c.16177-2A>G AND Spinocerebellar ataxia, autosomal recessive 8

Significance: Pathogenic
ClinVar: RCV000002415

Variant: NM_033071.3(SYNE1):c.16177-2A>G

Type: Variant
Allele: NM_033071.3(SYNE1):c.16177-2A>G 654425
Gene:
Type: Variation
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