NM_000080.4(CHRNE):c.1431C>T (p.Ala477=) AND Congenital myasthenic syndrome 4A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000981472.9
Allele description [Variation Report for NM_000080.4(CHRNE):c.1431C>T (p.Ala477=)]
NM_000080.4(CHRNE):c.1431C>T (p.Ala477=)
Condition(s)
-
Protoplasmic astrocytoma
Protoplasmic astrocytomaMedGen
-
C0334580[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024