NM_000533.5(PLP1):c.517C>T (p.Pro173Ser) AND Pelizaeus-Merzbacher disease
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 15, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004595783.1
Allele description [Variation Report for NM_000533.5(PLP1):c.517C>T (p.Pro173Ser)]
NM_000533.5(PLP1):c.517C>T (p.Pro173Ser)
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
-
cytochrome oxidase subunit I, partial (mitochondrion) [Spintharus flavidus]
cytochrome oxidase subunit I, partial (mitochondrion) [Spintharus flavidus]gi|223403404|gb|ACM89219.1|Protein
-
cytochrome oxidase subunit I, partial (mitochondrion) [Phonognatha graeffei]
cytochrome oxidase subunit I, partial (mitochondrion) [Phonognatha graeffei]gi|223403396|gb|ACM89215.1|Protein
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024