NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr) AND Congenital myasthenic syndrome 4A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003838130.2
Allele description [Variation Report for NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr)]
NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr)
Condition(s)
-
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Last Updated: Sep 29, 2024