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NM_015046.7(SETX):c.994C>T (p.Arg332Trp) AND Spinocerebellar ataxia autosomal recessive 1

Significance: Pathogenic
ClinVar: RCV000002378

Variant: NM_015046.7(SETX):c.994C>T (p.Arg332Trp)

Type: Variant
Allele: NM_015046.7(SETX):c.994C>T (p.Arg332Trp) 17327
Gene:
Type: single nucleotide variant
Location: Chr9: 135206680 - assembly GRCh37
Chr9: 132331293 - assembly GRCh38
References: dbSNP: 29001665
OMIM: 608465.0005
UniProtKB: Q7Z333#VAR_018778

Condition

Disease: Spinocerebellar ataxia autosomal recessive 1

Citation

    For discussion of the arg332-to-trp (R332W) mutation in the SETX gene that was found in compound heterozygous state in affected members of a family with autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (SCAN2; 606002) by Moreira et al. (2004), see 608465.0004.
PMID:14770181