NM_000533.5(PLP1):c.454-1G>T AND Pelizaeus-Merzbacher disease
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004595777.1
Allele description [Variation Report for NM_000533.5(PLP1):c.454-1G>T]
NM_000533.5(PLP1):c.454-1G>T
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
-
sugar-binding domain-containing protein [Negativicoccus massiliensis]
sugar-binding domain-containing protein [Negativicoccus massiliensis]gi|1180112163|ref|WP_083631548.1|Protein
-
sugar-binding transcriptional regulator [Dialister massiliensis]
sugar-binding transcriptional regulator [Dialister massiliensis]gi|1387943161|ref|WP_108849645.1|Protein
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024