NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys) AND ABCD1-related disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003407363.4
Allele description [Variation Report for NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)]
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
Condition(s)
- Name:
- ABCD1-related disorder
- Synonyms:
- ABCD1-related condition
- Identifiers:
Assertion and evidence details
Last Updated: Nov 24, 2024