NM_005506.4(SCARB2):c.567T>C (p.His189=) AND Action myoclonus-renal failure syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002502482.8
Allele description [Variation Report for NM_005506.4(SCARB2):c.567T>C (p.His189=)]
NM_005506.4(SCARB2):c.567T>C (p.His189=)
Condition(s)
- Name:
- Action myoclonus-renal failure syndrome
- Synonyms:
- MYOCLONUS-NEPHROPATHY SYNDROME; Epilepsy, progressive myoclonic 4, with or without renal failure; EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH RENAL FAILURE; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009699; MeSH: D020191; MedGen: C0751779; Orphanet: 163696; OMIM: 254900
-
integral nuclear envelope inner membrane protein [Homo sapiens]
integral nuclear envelope inner membrane protein [Homo sapiens]gi|439434|gb|AAA59495.1|Protein
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Last Updated: Oct 13, 2024