NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp) AND Progressive myoclonic epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 13, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001976582.7
Allele description [Variation Report for NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp)]
NM_004287.5(GOSR2):c.553C>T (p.Arg185Trp)
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_XZG13695.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7530042 5'...
JGI_XZG13695.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7530042 5', mRNA sequencegi|57207673|gnl|dbEST|27048832|gb|C 70.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024