NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr) AND Infantile spasms
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001034608.2
Allele description [Variation Report for NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)]
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)
Condition(s)
- Name:
- Infantile spasms
- Synonyms:
- Infantile spasm
- Identifiers:
- MedGen: C3887898; Human Phenotype Ontology: HP:0012469
-
Klebsiella pneumoniae
Klebsiella pneumoniaeKlebsiella pneumoniae Genome sequencing and assemblyBioProject
-
Klebsiella pneumoniae strain:CRKP36
Klebsiella pneumoniae strain:CRKP36Klebsiella pneumoniae strain:CRKP36 Genome sequencingBioProject
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024