NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr) AND Severe myoclonic epilepsy in infancy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 10, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001220529.2
Allele description
NM_001330723.2(SNX27):c.1348C>T (p.His450Tyr)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022