NM_000033.4(ABCD1):c.855T>C (p.Arg285=) AND Adrenoleukodystrophy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001403454.6
Allele description [Variation Report for NM_000033.4(ABCD1):c.855T>C (p.Arg285=)]
NM_000033.4(ABCD1):c.855T>C (p.Arg285=)
Condition(s)
- Name:
- Adrenoleukodystrophy (ALD)
- Synonyms:
- ADDISON DISEASE AND CEREBRAL SCLEROSIS; BRONZE SCHILDER DISEASE; MELANODERMIC LEUKODYSTROPHY; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018544; MedGen: C0162309; OMIM: 300100
Assertion and evidence details
Last Updated: Feb 28, 2024