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NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) AND Spinocerebellar ataxia autosomal recessive 1

Significance: Pathogenic
ClinVar: RCV000002377

Variant: NM_015046.7(SETX):c.2967_2971del (p.Arg989fs)

Type: Variant
Allele: NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) 17326
Gene:
Type: Deletion
Location: Chr9: 132328627 - 132328631 - assembly GRCh38
Chr9: 135204014 - 135204018 - assembly GRCh37
References: dbSNP: 587776536
OMIM: 608465.0004

Condition

Disease: Spinocerebellar ataxia autosomal recessive 1

Citation

    In a French family with autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (SCAN2; 606002), Moreira et al. (2004) identified compound heterozygous mutations in the SETX gene: a 5-bp deletion in exon 8, 2966_2970delGGAAA, causing a frameshift after Q988, and a 944C-T transition, resulting in an arg332-to-trp (R332W; 608465.0005) substitution.
PMID:14770181