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NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) AND Spinocerebellar ataxia autosomal recessive 1

Significance: Pathogenic
ClinVar: RCV000002375

Variant: NM_015046.7(SETX):c.2602C>T (p.Gln868Ter)

Type: Variant
Allele: NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) 17324
Gene:
Type: single nucleotide variant
Location: Chr9: 132328996 - assembly GRCh38
Chr9: 135204383 - assembly GRCh37
References: dbSNP: 121434377
OMIM: 608465.0002

Condition

Disease: Spinocerebellar ataxia autosomal recessive 1

Citation

    In an Algerian family with autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (SCAN2; 606002), Moreira et al. (2004) found a homozygous 2602C-T transition in the SETX gene, which resulted in a gln868-to-stop (Q868X) protein truncation.
PMID:14770181