NM_005670.4(EPM2A):c.501T>C (p.Gly167=) AND Progressive myoclonic epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003032025.3
Allele description [Variation Report for NM_005670.4(EPM2A):c.501T>C (p.Gly167=)]
NM_005670.4(EPM2A):c.501T>C (p.Gly167=)
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
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Pyricularia grisea strain D15/s37 scaffold_472, whole genome shotgun sequence
Pyricularia grisea strain D15/s37 scaffold_472, whole genome shotgun sequencegi|2286687993|gb|JABSND010000472.1| WGS:JABSND01|scaffold_472Nucleotide
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Pyricularia grisea strain D15/s37 scaffold_543, whole genome shotgun sequence
Pyricularia grisea strain D15/s37 scaffold_543, whole genome shotgun sequencegi|2286683262|gb|JABSND010000543.1| WGS:JABSND01|scaffold_543Nucleotide
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Pyricularia grisea strain D15/s37 scaffold_476, whole genome shotgun sequence
Pyricularia grisea strain D15/s37 scaffold_476, whole genome shotgun sequencegi|2286687943|gb|JABSND010000476.1| WGS:JABSND01|scaffold_476Nucleotide
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Pyricularia grisea strain D15/s37 scaffold_447, whole genome shotgun sequence
Pyricularia grisea strain D15/s37 scaffold_447, whole genome shotgun sequencegi|2286688705|gb|JABSND010000447.1| WGS:JABSND01|scaffold_447Nucleotide
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Pyricularia grisea strain D15/s37 scaffold_516, whole genome shotgun sequence
Pyricularia grisea strain D15/s37 scaffold_516, whole genome shotgun sequencegi|2286683404|gb|JABSND010000516.1| WGS:JABSND01|scaffold_516Nucleotide
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Last Updated: Sep 29, 2024