NM_020549.5(CHAT):c.441G>A (p.Leu147=) AND Familial infantile myasthenia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003632829.1
Allele description [Variation Report for NM_020549.5(CHAT):c.441G>A (p.Leu147=)]
NM_020549.5(CHAT):c.441G>A (p.Leu147=)
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
-
Lacticaseibacillus rhamnosus strain DS15_11 DS15_11_77_length_209_cov_84.780488,...
Lacticaseibacillus rhamnosus strain DS15_11 DS15_11_77_length_209_cov_84.780488, whole genome shotgun sequencegi|1383088559|ref|NZ_QAGZ01000054.1 |WGS:NZ_QAGZ01|DS15_11_77_length_209_cov_84.780488Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024