NM_198859.4(PRICKLE2):c.*2797A>T AND Progressive myoclonic epilepsy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000387204.5
Allele description [Variation Report for NM_198859.4(PRICKLE2):c.*2797A>T]
NM_198859.4(PRICKLE2):c.*2797A>T
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
-
C0302872 (0)
MedGen
-
NH08_RS0109930 [Streptomyces rimosus subsp. rimosus]
NH08_RS0109930 [Streptomyces rimosus subsp. rimosus]Gene ID:29531054Gene
-
C5L36_0E01193 [Pichia kudriavzevii]
C5L36_0E01193 [Pichia kudriavzevii]Gene ID:40385914Gene
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Last Updated: Dec 24, 2023