NM_000726.5(CACNB4):c.*1185T>C AND Juvenile myoclonic epilepsy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000314554.5
Allele description [Variation Report for NM_000726.5(CACNB4):c.*1185T>C]
NM_000726.5(CACNB4):c.*1185T>C
Condition(s)
-
C4085873[trait identifier] AND "Centre for Mendelian Genomics, Un... (4)
C4085873[trait identifier] AND "Centre for Mendelian Genomics, University Medical Centre Ljubljana"[submitter]SearchClinVar
-
"Centre for Mendelian Genomics, University Medical Centre Ljublja... (1)
"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[submitter] AND "PCK1"[gene]SearchClinVar
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023