NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) AND Adrenoleukodystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000990978.1
Allele description [Variation Report for NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)]
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)
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
-
GDS3355[ACCN] AND gsm[ETYP] (8)
GEO DataSets
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Last Updated: Sep 8, 2024