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NM_033071.3(SYNE1):c.8716A>T (p.Arg2906Ter) AND Spinocerebellar ataxia, autosomal recessive 8

Significance: Pathogenic
ClinVar: RCV000002417

Variant: NM_033071.3(SYNE1):c.8716A>T (p.Arg2906Ter)

Type: Variant
Allele: NM_033071.3(SYNE1):c.8716A>T (p.Arg2906Ter) 17366
Gene:
Type: single nucleotide variant
Location: Chr6: 152702455 - assembly GRCh37
Chr6: 152381320 - assembly GRCh38
References: dbSNP: 119103243
OMIM: 608441.0003

Condition

Disease: Spinocerebellar ataxia, autosomal recessive 8

Citation

    In affected members of families with the Beauce type of autosomal recessive cerebellar ataxia (610743), Gros-Louis et al. (2007) described a homozygous nonsense mutation in exon 56 of the SYNE1 gene: 247012A-T, arg2906 to stop (R2906X).
PMID:17159980