NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) AND Familial infantile myasthenia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001082979.9
Allele description [Variation Report for NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)]
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln)
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
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Thyroid dyshormonogenesis 1
Thyroid dyshormonogenesis 1MedGen
-
C1848805[conceptid] (1)
MedGen
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024