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NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) AND Spinocerebellar ataxia autosomal recessive 1

Significance: Pathogenic
ClinVar: RCV000002386

Variant: NM_015046.7(SETX):c.1027G>T (p.Glu343Ter)

Type: Variant
Allele: NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) 17335
Gene:
Type: single nucleotide variant
Location: Chr9: 132331123 - assembly GRCh38
Chr9: 135206510 - assembly GRCh37
References: dbSNP: 121434381
OMIM: 608465.0013

Condition

Disease: Spinocerebellar ataxia autosomal recessive 1

Citation

    In 4 sibs, born of consanguineous Algerian parents, with autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (SCAN2; 606002), Anheim et al. (2008) identified a homozygous 1027G-T transversion in exon 7 of the SETX gene, resulting in a glu343-to-ter (E343X) substitution. All had teenage onset of progressive cerebellar ataxia and areflexia. The unaffected parents were heterozygous for the mutation.
PMID:18625865