NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn) AND Generalized epilepsy-paroxysmal dyskinesia syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003621610.1
Allele description [Variation Report for NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn)]
NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn)
Condition(s)
-
Structure Links for Protein (Select 583317726) (4)
Structure
-
Taxonomy Links for Nucleotide (Select 19134677) (1)
Taxonomy
-
Taxonomy Links for Protein (Select 187953907) (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024