NM_005861.4(STUB1):c.807dup (p.Val270fs) AND Spinocerebellar ataxia 48
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001809156.1
Allele description [Variation Report for NM_005861.4(STUB1):c.807dup (p.Val270fs)]
NM_005861.4(STUB1):c.807dup (p.Val270fs)
Condition(s)
-
ZF637-3-001526 Zebrafish shield stage whole embryo cDNA library MPMGp637 Danio r...
ZF637-3-001526 Zebrafish shield stage whole embryo cDNA library MPMGp637 Danio rerio cDNA clone MPMGp637_20P11;MPMGp637P1120 5', mRNA sequencegi|16099542|gnl|dbEST|9796179|gb|BI 1.1|Nucleotide
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Last Updated: Sep 1, 2024