NM_000747.3(CHRNB1):c.865G>A (p.Val289Met) AND Congenital myasthenic syndrome 2A
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Feb 9, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000020040.40
Allele description [Variation Report for NM_000747.3(CHRNB1):c.865G>A (p.Val289Met)]
NM_000747.3(CHRNB1):c.865G>A (p.Val289Met)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024