NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly) AND Progressive myoclonic epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 11, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000823447.6
Allele description [Variation Report for NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)]
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)
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
-
JGI_CABC4362.rev NIH_XGC_tropFat1 Xenopus tropicalis cDNA clone CABC4362 3', mRN...
JGI_CABC4362.rev NIH_XGC_tropFat1 Xenopus tropicalis cDNA clone CABC4362 3', mRNA sequencegi|71452077|gnl|dbEST|30345385|gb|D 37.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024