NM_004287.5(GOSR2):c.478-4C>G AND Progressive myoclonic epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001414306.7
Allele description [Variation Report for NM_004287.5(GOSR2):c.478-4C>G]
NM_004287.5(GOSR2):c.478-4C>G
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
-
Rattus norvegicus insulin-like growth factor binding protein 6 (Igfbp6), mRNA
Rattus norvegicus insulin-like growth factor binding protein 6 (Igfbp6), mRNAgi|6981089|ref|NM_013104.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024