NM_005506.4(SCARB2):c.1116G>A (p.Leu372=) AND Progressive myoclonic epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002064678.12
Allele description [Variation Report for NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)]
NM_005506.4(SCARB2):c.1116G>A (p.Leu372=)
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
-
sugar-transfer associated ATP-grasp domain-containing protein [Brevibacterium se...
sugar-transfer associated ATP-grasp domain-containing protein [Brevibacterium senegalense]gi|1727614785|ref|WP_147522207.1|Protein
-
PREDICTED: ras GTPase-activating-like protein IQGAP1 [Myotis davidii]
PREDICTED: ras GTPase-activating-like protein IQGAP1 [Myotis davidii]gi|987957512|ref|XP_015423227.1|Protein
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Last Updated: Oct 13, 2024