NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys) AND Spinocerebellar ataxia type 21
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 25, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000148346.6
Allele description [Variation Report for NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)]
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys)
Condition(s)
-
similar to MFS sugar transporter [Plenodomus lingam JN3]
similar to MFS sugar transporter [Plenodomus lingam JN3]gi|312219459|emb|CBX99403.1|Protein
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024