NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr) AND Familial infantile myasthenia
- Germline classification:
- Pathogenic (4 submissions)
- Last evaluated:
- Mar 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000019067.32
Allele description [Variation Report for NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)]
NM_020549.5(CHAT):c.1007T>C (p.Ile336Thr)
Condition(s)
- Name:
- Familial infantile myasthenia (CMS6)
- Synonyms:
- Congenital myasthenic syndrome with episodic apnea; Myasthenic syndrome congenital associated with episodic apnea; Myasthenic syndrome, presynaptic, congenital, associated with episodic apnea; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009689; MedGen: C0393929; Orphanet: 590; OMIM: 254210
Assertion and evidence details
Last Updated: Jun 17, 2024