NM_005861.4(STUB1):c.778dup (p.His260fs) AND Spinocerebellar ataxia 48
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 1, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002237203.1
Allele description [Variation Report for NM_005861.4(STUB1):c.778dup (p.His260fs)]
NM_005861.4(STUB1):c.778dup (p.His260fs)
Condition(s)
-
AL923004 PJR-Z1+Z2 Danio rerio cDNA clone 119-D08-2, mRNA sequence
AL923004 PJR-Z1+Z2 Danio rerio cDNA clone 119-D08-2, mRNA sequencegi|23189584|gnl|dbEST|14036705|emb| 004.1|Nucleotide
-
dexamethasone-induced Ras-related protein 1 isoform 1 proprotein [Homo sapiens]
dexamethasone-induced Ras-related protein 1 isoform 1 proprotein [Homo sapiens]gi|7706359|ref|NP_057168.1|Protein
-
LOC560917 [Danio rerio]
LOC560917 [Danio rerio]Gene ID:560917Gene
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Last Updated: Sep 1, 2024