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NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu) AND Spinocerebellar ataxia autosomal recessive 1

Significance: Pathogenic
ClinVar: RCV000002376

Variant: NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu)

Type: Variant
Allele: NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu) 17325
Gene:
Type: single nucleotide variant
Location: Chr9: 135156870 - assembly GRCh37
Chr9: 132281483 - assembly GRCh38
References: dbSNP: 28940290
OMIM: 608465.0003
UniProtKB: Q7Z333#VAR_018791

Condition

Disease: Spinocerebellar ataxia autosomal recessive 1

Citation

    In a Japanese family with autosomal recessive spinocerebellar ataxia with axonal neuropathy-2 (SETX; 606002), Moreira et al. (2004) found homozygosity for a 6638C-T transition in the SETX gene, resulting in a pro2213-to-leu (P2213L) amino acid substitution.
PMID:14770181