NM_000100.4(CSTB):c.295T>C (p.Ter99Arg) AND Progressive myoclonic epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 9, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002009325.3
Allele description [Variation Report for NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)]
NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)
Condition(s)
- Name:
- Progressive myoclonic epilepsy
- Synonyms:
- Myoclonic Epilepsies, Progressive; Familial progressive myoclonic epilepsy; Progressive myoclonus epilepsy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0020074; MedGen: C0751778; Orphanet: 308; OMIM: PS254800
-
Human intrinsic factor mRNA, complete cds
Human intrinsic factor mRNA, complete cdsgi|806639|gb|M63154.1|HUMGIFNucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024