NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu) AND Spinocerebellar ataxia autosomal recessive 1
| Significance: | Pathogenic |
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| ClinVar: | RCV000002376 |
Variant: NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu) |
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| Type: | Variant |
Allele: NM_015046.5(SETX):c.6638C>T (p.Pro2213Leu) 17325 |
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| Gene: | SETX |
| Type: | single nucleotide variant |
| Location: |
Chr9: 135156870
- assembly
GRCh37 Chr9: 132281483 - assembly GRCh38 |
| References: | dbSNP:
28940290 OMIM: 608465.0003 UniProtKB: Q7Z333#VAR_018791 |
Condition |
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| Disease: | Spinocerebellar ataxia autosomal recessive 1 |
Citation |
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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 |
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