NM_000533.5(PLP1):c.105T>A (p.Cys35Ter) AND Pelizaeus-Merzbacher disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004595759.1
Allele description [Variation Report for NM_000533.5(PLP1):c.105T>A (p.Cys35Ter)]
NM_000533.5(PLP1):c.105T>A (p.Cys35Ter)
Condition(s)
- Name:
- Pelizaeus-Merzbacher disease
- Synonyms:
- LEUKODYSTROPHY, HYPOMYELINATING, 1; Pelizaeus Merzbacher brain sclerosis; Sudanophilic leukodystrophy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010714; MedGen: C0205711; Orphanet: 702; OMIM: 312080; Human Phenotype Ontology: HP:0003269
-
Homo sapiens small integral membrane protein 30 (SMIM30), transcript variant 2, ...
Homo sapiens small integral membrane protein 30 (SMIM30), transcript variant 2, mRNAgi|1519244966|ref|NM_001352688.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024